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The variants below are all in the LAMA2 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than LAMA2, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the LAMA2 full legend here.

946 public entries
entries per page

Path.

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Reference

Template

Technique

Frequency

RE-site

Phenotype

Phenotype additional

Reference

Remarks

Geographic origin

Ethnic origin

Gender

Inheritance

Consanguinity

Fam_Pat

# reported

CK level

Protein data


?/?	1	c.-17delC	-	r.(?)	p.(=)	LAMA2_00314	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/-	1_65	c.= + c.=, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, limb-girdle (LGMD)	calve hypertrophy; functional grade 3	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	F	familial	yes	-	1	689	-
-/-	1_65	c.= + c.=, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, limb-girdle (LGMD)	calve hypertrophy; functional grade 7	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	M	familial, autosomal recessive	yes	-	1	1232	-
-/-	1_65	c.= + c.=, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, limb-girdle (LGMD)	calve hypertrophy; functional grade 7	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	M	familial, autosomal recessive	yes	-	1	337	-
-/-	1_65	c.= + c.=, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, limb-girdle (LGMD)	no calve hypertrophy; functional grade 9	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	M	familial, autosomal recessive	yes	-	1	452	-
-/-	1_65	c.= + c.8007delT, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, limb-girdle (LGMD)	calve hypertrophy; functional grade 3	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	M	familial, autosomal recessive	yes	-	1	4062	-
-/-	1_65	c.= + c.=, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, limb-girdle (LGMD)	calve hypertrophy; functional grade 3	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	F	familial, autosomal recessive	yes	-	1	2522	-
-/-	1_65	c.= + c.8007delT, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, limb-girdle (LGMD)	calve hypertrophy; functional grade 4	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	M	familial, autosomal recessive	yes	-	1	5675	-
-/-	1_65	c.= + c.8007delT, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	-	calve hypertrophy; functional grade 4	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	-	familial, autosomal recessive	yes	-	6	-	-
-/-	1_65	c.= + c.=, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	-	calve hypertrophy; functional grade 4	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	-	familial, autosomal recessive	yes	-	2	-	-
-/-	1_65	c.= + c.8007delT, CAPN3 (2)	-	r.=	p.=	LAMA2_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	-	calve hypertrophy; functional grade 4	Tunisia:Sfax	5-generation family, branches with CAPN3 and LAMA2 variants	Tunisia	-	-	familial, autosomal recessive	yes	-	3	-	-
?/?	1_65	c.? + c.?	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	contractures ankles, abnormal white matter, no seizures	(United States)	-	M	unknown	-	-	1	4394	IHC no LAMA2
+/?	1	c.? + c.?	-	r.0	p.0	LAMA2_00000	-	germline (inherited)	Hayashi 1995	DNA, RNA	RT-PCR	1/40 patients	-	dystrophy, muscular, congenital	generalized hypotonia, no head control/sit, absent deep tendon reflexes CT-scan brain diffuse low density areas cerebral white matter, EMG myogenic patterns; died of pneumonia caused by respiratory deficit	JdD	-	Japan	-	F	isolated (sporadic)	no	-	1	1214 U/L	IHC no LAMA2
+/?	1	c.? + c.?	-	r.0	p.0	LAMA2_00000	-	germline (inherited)	Hayashi 1995	DNA, RNA	RT-PCR	1/40 patients	-	dystrophy, muscular, congenital	generalized hypotonia, no head control/sit, absent deep tendon reflexes CT-scan brain diffuse low density areas cerebral white matter, EMG myogenic patterns; died of pneumonia caused by respiratory deficit	JdD	-	Japan	-	F	isolated (sporadic)	no	-	1	1214 U/L	IHC no LAMA2
+/?	1_65	c.? + c.112+3A>G	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	(France)	-	-	unknown	-	-	1	-	IHC LAMA2 partially absent
+/?	1_65	c.? + c.1207-1G>C	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	?	-	-	unknown	-	-	1	-	IHC LAMA2 partially absent
+/?	1_65	c.? + c.1377delC	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	PG	(France)	-	-	unknown	-	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.1580G>A	-	r.0	p.0	LAMA2_00000	allele not expressed	germline (inherited)	Tezak 2003, (OMIM 0010)	DNA, RNA	RT-PCR, DHPLC	-	-	dystrophy, muscular, congenital	muscle weakness, hypotonia; 4y-contractures, no seizures	JdD	-	United States	-	F	isolated (sporadic)	-	-	1	2000 U/L	IHC LAMA2 partially absent
+/?	1_65	c.? + c.1793_1795del	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	PG	(France)	-	-	unknown	-	-	1	-	IHC LAMA2 mild reduction
+/?	1_65	c.? + c.1854_1861dup	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	(France)	-	-	unknown	-	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.2049_2050del	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	contractures ankles/knees/wrists/elbows, abnormal white matter, no seizures	(United States)	-	M	unknown	-	-	1	4360	IHC no LAMA2
?/?	1_65	c.? + c.2049_2050del, c.2799A>G	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	2-generation family, affected son, unaffected carrier father	?	-	M	isolated (sporadic)	no	-	1	-	IHC no LAMA2
+/?	1_65	c.? + c.2750-1G>A	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	(France)	-	-	unknown	-	-	1	-	IHC LAMA2 partially absent
+/?	1_65	c.? + c.2954G>A	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	PG	(France)	-	-	unknown	-	-	1	-	IHC LAMA2 partially absent
?/?	1_65	c.? + c.2T>C	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	contractures elbows/wrists/hips/knees/ankles, abnormal white matter (hypoplastics pons.), no seizures	Japan	-	M	unknown	-	-	1	25000	IHC no LAMA2
+/?	1_65	c.? + c.3085C>T	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	PG	(France)	-	-	unknown	-	-	1	-	IHC no LAMA2
+/?	1_65	c.? + c.3976C>T	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	PG	(France)	-	-	unknown	-	-	1	-	IHC no LAMA2
+/?	1_65	c.? + c.4280delG	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	(France)	-	-	unknown	-	-	1	-	IHC LAMA2 partially absent
+/?	1_65	c.? + c.4309C>T	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	PG	(France)	-	-	unknown	-	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.4375delG	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	no epilepsy, MRI brain classic abnormalities white matter changes	JdD	-	Italy	-	F	isolated (sporadic)	-	-	1	<1000 U/L	IHC no LAMA2
+/?	1_65	c.? + c.4690C>T	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	PG	(France)	-	-	unknown	-	-	1	-	IHC LAMA2 partially absent
?/?	1_65	c.? + c.5116C>T	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	contractures, abnormal white matter, no seizures	Japan	-	M	unknown	-	-	1	2360	IHC no LAMA2
+/?	1_65	c.? + c.5487_5488del	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	PG	(France)	-	-	unknown	-	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.5562+5G>A	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	waddling gait, bilateral pes cavus,; 25y-multiple contractures, tonic-clonic seizures	JdD	-	United States	-	M	isolated (sporadic)	-	-	1	739 U/L	IHC LAMA2 partially absent
?/?	1_65	c.? + c.5562+5G>C	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	6y-waddling gait, proximal muscle weakness; 7y-complex partial seizures	JdD	-	United States	-	F	isolated (sporadic)	-	-	1	3000 U/L	IHC LAMA2 partially absent
?/?	1_65	c.? + c.5865delG	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	contractures elbows/hips/knees/ankles, abnormal white matter, seizures partialcomplex secondary generalized	Japan	-	F	unknown	-	-	1	314-6192	IHC no LAMA2
?/?	1_65	c.? + c.628G>T	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	Turkey	-	-	isolated (sporadic)	no	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.6919_6920del	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	Italy	-	-	isolated (sporadic)	no	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.6948G>A	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	Uruguay	-	-	isolated (sporadic)	no	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.6955C>T	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	(United States)	-	F	unknown	-	-	1	8000	IHC no LAMA2
+/?	1_65	c.? + c.7377dupT	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	PG	(France)	-	-	unknown	-	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.7435_7436del	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	contractures ankles, normal white matter, no seizures; death respiratory failure	(United States)	-	F	unknown	-	-	1	4200	IHC no LAMA2
?/?	1_65	c.? + c.82C>T	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	contractures knees, abnormal white matter, no seizures; death respiratory failure	JdD	-	(United States)	-	M	unknown	-	-	1	839	IHC no LAMA2
+/?	1	c.? + c.9101_9104dup	-	r.0	p.0	LAMA2_00000	variant in promoter?	germline (inherited)	Pegoraro 1998, Hayashi 2001	DNA, RNA	PTT, SSCA, SEQ	-	-	dystrophy, muscular, congenital	-	JdD	contractures wrists/ankles, abnormal white matter, no seizures	Japan	-	M	unknown	-	-	1	2000-3000	IHC no LAMA2
?/?	1_65	c.? + c.2799A>G, c.2901C>A, c.5530C>A	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	2-generation family, affected brother/sister, unaffected carrier mother	Italy	-	-	isolated (sporadic)	no	-	2	-	IHC no LAMA2
?/?	1_65	c.? + c.1856G>A, c.1856G>A, c.2799A>G, c.2901C>A, c.5530C>A	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	2-generation family, affected daugther, unaffected carrier father	Italy	-	F	isolated (sporadic)	no	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.2584T>C	-	r.0	p.0	LAMA2_00000	allele not expressed	germline (inherited)	Tezak 2003, (OMIM 0009)	DNA, RNA	RT-PCR, SEQ	-	-	dystrophy, muscular, congenital	contractures knees/elbows, mild scoliosis, cognitive decline 18-24y; 21y-complex seizures	JdD	-	United States	-	F	isolated (sporadic)	-	-	1	762 U/L	IHC LAMA2 partially absent
?/?	1_65	c.? + c.4750G>A	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital	3y-normal gait, waddling run, no seizures	JdD	-	United States	-	M	isolated (sporadic)	-	-	1	20000 U/L	IHC LAMA2 partially absent
?/?	1_65	c.? + c.164delA	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	MRI brain white matter changes	United States:Marshfield, WI	-	Canada	French Canadian	-	unknown	-	-	1	-	biopsy IHC LAMA2 deficient
+/?	1_65	c.? + c.?	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome, founder haplotype (Ireland)	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	decreased lung capacity (<70%FVC), contractures, feeding problems (incl. bulbar weakness), MRI white matter change, occipital agyria	Geranmayeh 2010, JdD	-	United Kingdom	Ireland	F	unknown	-	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.?	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	decreased lung capacity (<70%FVC), mild contractres, feeding problems (incl. bulbar weakness), MRI typical white matter change MDC1A, abnormal cortical folding medial temporal/occipital lobes	Geranmayeh 2010, JdD	-	-	-	F	unknown	-	-	1	-	IHC residual LAMA2
?/?	1_65	c.? + c.2538-1G>C	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	decreased lung capacity (<70%FVC), mild contractres, 3y-enteral feeding, MRI typical white matter change MDC1A, simple partial seizures, 1.7y-normal echo	Geranmayeh 2010, JdD	-	-	-	F	unknown	-	-	1	-	IHC residual LAMA2
+/?	1_65	c.? + c.?	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome, founder haplotype (Ireland)	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	decreased lung capacity (<70%FVC), scoliosis, contractures to severe contractures, feeding problems (incl. bulbar weakness), simple partial seizures, 0.4y-normal echo	Geranmayeh 2010, JdD	-	United Kingdom	Ireland	F	unknown	-	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.?	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	decreased lung capacity (<70%FVC), scoliosis, contractures, feeding problems (incl. bulbar weakness)	Naom, Geranmayeh 2010, JdD	patient’s parents heterozyous for common haplotype seen in other families with MDC1A affecteds + homozygously present in affecteds; no DNA available	-	-	M	unknown	-	-	1	-	IHC no LAMA2
+/?	1_65	c.? + c.?	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome, founder haplotype (Ireland)	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	12y-ventilatory support, scoliosis, severe contractures, 12y-enteral feeding, WM change, narrow aquaduct, dilated ventricles, thin corpus callosum, 11y-normal echo	Geranmayeh 2010, JdD	-	United Kingdom	Ireland	F	unknown	-	-	1	-	IHC no LAMA2
?/?	1_65	c.? + c.1207-1G>A	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	decreased lung capacity (<70%FVC), mild contractres to contractures, feeding problems (incl. bulbar weakness), MRI typical white matter change MDC1A	Geranmayeh 2010, JdD	20207543-Pat43/P46 are siblings	-	-	M	unknown	-	-	1	-	IHC residual LAMA2
?/?	1_65	c.? + c.1207-1G>A	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	decreased lung capacity (<70%FVC), contractures, MRI typical white matter change MDC1A, significant white matter change left frontal/anterior temporal lobes, generalised seizures	Geranmayeh 2010, JdD	20207543-Pat43/P46 are siblings	-	-	F	unknown	-	-	1	-	IHC residual LAMA2
+/?	1_65	c.? + c.?	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome, founder haplotype (Ireland)	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	ventilatory support, mild contractres to contractures, 4y-enteral feeding	Geranmayeh 2010, JdD	-	United Kingdom	Ireland	M	unknown	-	-	1	-	IHC LAMA2 ?
?/?	1_65	c.? + c.1798_1800del	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	muscular weakness with axial, proximal predominance, scoliosis; contractures elbows/ankles; no seizures; MRI brain white matter changes, no gyral abnormalities	Portugal:Porto	-	Spain	-	M	isolated (sporadic)	-	-	1	3264	-
+/?	1_65	c.? + c.3085C>T	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	muscular weakness with proximal predominance, hip congenital luxation; contractures knees; no seizures; MRI brain white matter changes, no gyral abnormalities	Portugal:Porto	-	Portugal	-	M	isolated (sporadic)	-	-	1	1770	IHC no LAMA2
?/?	1_65	c.? + c.640-?_1782+?del	-	r.?	p.?	LAMA2_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular	muscular dystrophy Becker/limb-girdle like	JdD	2-generation family, 2 affected sisters	-	-	-	isolated (sporadic)	no	-	1	-	-
+/?	1	c.2T>C + c.?	T51C	r.2u>c	p.0?	LAMA2_00003	-	germline (inherited)	Pegoraro 1998, Hayashi 2001	DNA, RNA	PTT, SSCA, SEQ	-	-	dystrophy, muscular, congenital	-	JdD	contractures elbows/wrists/hips/knees/ankles, abnormal white matter (hypoplastics pons.), no seizures	Japan	-	M	unknown	-	-	1	25000	IHC no LAMA2
+/?	1	c.2T>C + c.4750G>A, c.6993-2A>C	-	r.(?)	p.0?	LAMA2_00003	-	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	-	United States:Marshfield, WI	-	United States	-	M	unknown	-	-	1	-	LAMA2 absent
+?/?	1	c.2T>C + c.4750G>A, c.5562+5G>C, c.9211+6T>C	-	r.(?)	p.0?	LAMA2_00003	-	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	brain MRI consistent with MDC1A	United States:Marshfield, WI	-	United States	-	M	unknown	-	-	1	-	LAMA2 decreased
+?/?	1	c.2T>C + c.47delG, c.4750G>A	(Met1Thr)	r.(?)	p.0?	LAMA2_00003	-	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	3m-MRI white matter changes	United States:Marshfield, WI	-	(United States)	-	M	unknown	-	-	1	elevated	-
+/?	1	c.2T>C + c.7572+1G>A	Met1Thr	r.(?)	p.0?	LAMA2_00003	-	germline (inherited)	-	DNA	PCR, SEQ	-	-	MDC1A	-	United States:Marshfield, WI	-	United States	-	-	unknown	-	-	1	-	merosin deficient muscle biopsy
?/?	1	c.35T>G + c.7297C>T	-	r.(?)	p.(Leu12Arg)	LAMA2_00190	-	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	-	United States:Marshfield, WI	-	United States	-	F	unknown	-	-	1	-	-
+?/?	1	c.47delG + c.2T>C, c.4750G>A	-	r.(?)	p.(Gly16Alafs*29)	LAMA2_00230	-	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	3m-MRI white matter changes	United States:Marshfield, WI	-	(United States)	-	M	unknown	-	-	1	elevated	-
+/?	1	c.82C>T + c.?	C131T	r.82c>u	p.Gln28*	LAMA2_00004	-	germline (inherited)	Pegoraro 1998	DNA, RNA	PTT, SEQ, SSCA	-	-	dystrophy, muscular, congenital	contractures knees, abnormal white matter, no seizures; death respiratory failure	JdD	-	(United States)	-	M	unknown	-	-	1	839	IHC no LAMA2
+?/?	1	c.94C>T + c.8245-2A>G	-	r.(?)	p.(Gln32*)	LAMA2_00205	-	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	-	United States:Marshfield, WI	-	-	-	F	unknown	-	-	1	-	LAMA2 deficient biopsy
?/?	1	c.112G>A + c.112G>A	-	r.spl?	p.(Gly38Ser)	LAMA2_00309	-	germline (inherited)	-	DNA	PCR, SEQ	-	-	dystrophy, muscular, congenital (MDC-1A)	-	United States:Marshfield, WI	-	Saudi Arabia	Arab	-	unknown	-	-	1	-	LAMA2 deficient muscle biopsy
+?/?	1	c.112G>A + c.112G>A	-	r.(spl?)	p.(Gly38Ser)	LAMA2_00309	c.112G is the terminal nucleotide exon 1	germline (inherited)	-	DNA	PCR, SEQ	-	-	MDC-1A	-	United States:Marshfield, WI	-	Saudi Arabia	Arab	M	familial, autosomal recessive	-	-	1	-	-
+/?	1i	c.112+1G>A + c.7439+1G>A	-	r.spl?	p.?	LAMA2_00260	-	germline (inherited)	Geranmayeh 2010	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	2y-ventilatory support, scoliosis, contractures to severe contractures, 1y-enteral feeding, MRI bilateral occipital micropolygyria, fronto-parietal white matter change, generalised seizures	JdD	-	-	-	F	unknown	-	-	1	-	IHC no LAMA2
?/?	1i	c.112+1G>A	-	r.spl	p.?	LAMA2_00260	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
+/?	1i	c.(112+?_113-?)? + c.1893_1897del	162ins75	r.[112_113ins112+1_112+75{?}]	p.(fs*)	LAMA2_00006	-	germline (inherited)	Hayashi 1997	DNA, RNA	RT-PCR, SEQ	-	-	dystrophy, muscular, congenital	delayed motor milestones (climb up/down staircase 10y); 35y walk with support, slowly progressive muscle weakness; 39y respiratory distress; MRI brain diffuse leucodystrophic changes; muslce biopsy dystrophic changes	JdD	-	Japan	-	M	unknown	-	-	1	-	IHC/WB partially positive LAMA2, no LAMA2 peripheral nerve Schwann cell basal lamina
+/?	1i	c.112+3A>G + c.?	161+3A>G	r.spl?	p.?	LAMA2_00084	-	germline (inherited)	Allamand 2002	DNA	SEQ	-	-	dystrophy, muscular, congenital	-	JdD	-	(France)	-	-	unknown	-	-	1	-	IHC LAMA2 partially absent
?/?	2	c.156C>T + 25 others	-	r.(?)	p.(=)	LAMA2_00153	-	germline (inherited)	dbSNP-rs1140366	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	unknown	-	-	1	-	-
-/?	2	c.156C>T	-	r.(?)	p.(=)	LAMA2_00153	-	germline (inherited)	-	DNA	SEQ	-	-	-	-	Portugal:Porto	-	Portugal	-	-	unknown	-	-	1	-	-
-/?	2	c.156C>T	I521I	r.(?)	p.(=)	LAMA2_00153	-	germline (inherited)	Di Blasi 2005	DNA	SEQ	0.19	-	-; dystrophy, muscular, congenital, type 1A (MDC-1A)	-	JdD	-	Italy	-	-	isolated (sporadic)	no	-	1	-	-
-/?	2	c.156C>T	-	r.(?)	p.(=)	LAMA2_00153	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
+?/?	2	c.164delA + c.?	-	r.(?)	p.(Asn55Metfs*16)	LAMA2_00232	-	germline (inherited)	-	DNA	PCR, SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	MRI brain white matter changes	United States:Marshfield, WI	-	Canada	French Canadian	-	unknown	-	-	1	-	biopsy IHC LAMA2 deficient
?/?	2	c.184G>T	-	r.(?)	p.(Gly62*)	LAMA2_00315	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
+/?	2	c.(247T>C) + c.(247T>C)	-	r.(247u>c)	p.Cys83Arg	LAMA2_00000	-	animal model	Patton 2008	DNA, RNA	RT-PCR, SEQ	-	-	dystrophy, muscular, congenital	-	JdD	nmf417 mouse model	-	-	-	unknown	-	-	1	-	IHC no LAMA2
+/?	2	c.(247T>C) + c.(247T>C)	-	r.(247u>c)	p.Cys83Arg	LAMA2_00000	-	animal model	Patton 2008	DNA, RNA	RT-PCR, SEQ	-	-	dystrophy, muscular, congenital	-	JdD	nmf417 mouse model	-	-	-	unknown	-	-	1	-	IHC no LAMA2
?/?	2	c.257G>A	-	r.(?)	p.(Cys86Tyr)	LAMA2_00007	-	germline (inherited)	Subm. FMuntoni	DNA	SEQ	-	-	?	-	JdD	ICSM	-	-	-	unknown	-	-	1	-	merosin staining partial
+/?	2	c.283C>T + c.283C>T	-	r.283c>u	p.Gln95*	LAMA2_00136	-	germline (inherited)	Di Blasi 2005	DNA, RNA	RT-PCR, SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	no epilepsy	JdD	-	Tunisia	-	F	isolated (sporadic)	-	-	1	>1000 U/L	IHC no LAMA2
+/?	2	c.283C>T + c.283C>T	-	r.283c>u	p.Gln95*	LAMA2_00136	-	germline (inherited)	Di Blasi 2005	DNA, RNA	RT-PCR, SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	no epilepsy	JdD	-	Tunisia	-	F	isolated (sporadic)	-	-	1	>1000 U/L	IHC no LAMA2
+/?	2i	c.(283+1G>A) + c.(283+1G>A)	-	r.spl?	p.(Val78_Gln132del)	LAMA2_00000	-	germline (inherited)	Hu 1994	DNA, RNA	RT-PCR, SEQ	-	-	dystrophy, muscular, congenital	-	JdD	dy2J mouse model	-	-	-	unknown	-	-	1	-	-
+/?	2i	c.(283+1G>A) + c.(283+1G>A)	-	r.spl?	p.(Val78_Gln132del)	LAMA2_00000	-	germline (inherited)	Hu 1994	DNA, RNA	RT-PCR, SEQ	-	-	dystrophy, muscular, congenital	-	JdD	dy2J mouse model	-	-	-	unknown	-	-	1	-	-
+/?	2i	c.283+1G>A + c.391C>T	-	r.spl?	p.?	LAMA2_00261	-	germline (inherited)	Geranmayeh 2010	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	ventilatory support, contractures, 1.5y-enteral feeding, MRI typical white matter change MDC1A, subtle abnormality in cortical folding, craniosynostosis	JdD	-	-	-	M	unknown	-	-	1	-	IHC no LAMA2
+?/?	2i	c.283+2delT + c.1609-41_1609-7inv	-	r.spl?	p.(del?)	LAMA2_00073	-	germline (inherited)	-	DNA	PCR, SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	-	United States:Marshfield, WI	-	United States	-	F	unknown	-	-	1	-	-
?/?	2i	c.284-131C>T + 25 others	-	r.(=)	p.(=)	LAMA2_00154	-	germline (inherited)	dbSNP-rs10499148	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	unknown	-	-	1	-	-
-/?	2i	c.284-131C>T	-	r.(=)	p.(=)	LAMA2_00154	-	germline (inherited)	-	DNA	SEQ	0.11	-	-	-	Portugal:Porto	-	Portugal	-	-	unknown	-	-	1	-	-
-/?	2i	c.284-85delinsGG	-	r.(=)	p.(=)	LAMA2_00155	-	germline (inherited)	Oliveira 2008	DNA	SEQ	5/50	-	-	-	Portugal:Porto	-	Portugal	-	-	unknown	-	-	5	-	-
+/?	3	c.363C>A + c.7750-1713_7899-2154del	-	r.(?)	p.(Tyr121*)	LAMA2_00152	-	germline (inherited)	Oliveira 2008	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	proximal weakness with mild progression, facial/bulbar paresis, severe scoliosis (0.9y), nocturnal ventilation (0.3y); contractures generalized; no seizures; MRI brain white matter changes, no gyral abnormalities	Portugal:Porto	-	Portugal	-	M	isolated (sporadic)	-	-	1	840	IHC no LAMA2
-/?	3	c.381C>A	430A>C (error)	r.381c>a	p.=	LAMA2_00110	-	germline (inherited)	Tezak 2003	DNA, RNA	RT-PCR, SSCA, DHPLC	0.02	-	-	-	JdD	-	United States	-	-	unknown	-	-	1	-	-
-/?	3	c.381C>A + 13 others	-	r.(?)	p.(=)	LAMA2_00110	DNA analyzed by exon sequencing at Prevention Genetics	germline (inherited)	-	DNA	PCR	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	hypotonia	United States:Watertown, MA	MDC1A myoblast line 96/04 (Eurobiobank)	(Germany)	-	M	unknown	-	-	1	-	IHC/WB LAMA2 negative
-/?	3	c.381C>A	-	r.(?)	p.(=)	LAMA2_00110	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
+/?	3	c.391C>T + c.283+1G>A	-	r.(?)	p.(Gln131*)	LAMA2_00262	-	germline (inherited)	Geranmayeh 2010	DNA	SEQ	-	-	dystrophy, muscular, congenital, type 1A (MDC-1A)	ventilatory support, contractures, 1.5y-enteral feeding, MRI typical white matter change MDC1A, subtle abnormality in cortical folding, craniosynostosis	JdD	-	-	-	M	unknown	-	-	1	-	IHC no LAMA2
+?/?	3i	c.396+1G>T + c.498G>A	-	r.spl?	p.?	LAMA2_00210	-	germline (inherited)	-	DNA	SEQ	-	-	dystrophy, muscular, congenital (MDC)	-	United States:Marshfield, WI	-	(United States)	Hispanic	F	unknown	-	-	1	-	-

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Legend: [ LAMA2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant affecting function (pathogenicity), in the format Reported/Concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown. Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change LAMA2 DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site Phenotype: phenotype of the individual Phenotype additional: detailed phenotypic features of the individual Reference: publication describing the phenotype of the patient Remarks: Remarks Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # reported: Number of times this case has been reported CK level: CK level Protein data: Protein data

Leiden Muscular Dystrophy pages

Laminin-alpha 2 (merosin) (LAMA2)