View all contents - Leiden Muscular Dystrophy pages

About this overview [Show]

The variants below are all in the MYOT 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 MYOT, 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 MYOT full legend here.

121 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.-251A>G + c.=	-	r.(?)	p.(=)	MYOT_00015	-	germline (inherited)	Godley 1999	DNA	SEQ, SSCA	-	-	-	-	JdD	MDL/AML patient	Italy	-	-	unknown	-	-	1	-	-
-/?	1	c.-124T>G	-	r.(?)	p.(=)	MYOT_00004	sequence comparison	germline (inherited)	-	DNA	SEQ	6/50	-	-	-	JdD	-	-	-	-	unknown	-	-	6	-	-
-/?	1_10	c.= + c.1325-47T>C	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	-	-	JdD	-	-	-	?	unknown	-	-	1	-	-
-/?	1_10	c.= + c.149A>G	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	-	-	JdD	MDL/AML patient	Italy	-	-	unknown	-	-	1	-	-
-/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	LGMD-1A	-	JdD	4 affecteds 3-generation family	Argentina	-	-	familial	-	-	4	5x-15x	-
-/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	cardiomyopathy	JdD	affected son and brother	United States	-	F	familial	-	-	2	normal	-
-/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	3 unrelated sporadic patients	Spain	-	-	isolated (sporadic)	-	-	3	-	-
-/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	8 affected 4 generation family	Spain	-	-	unknown	-	-	8	2x	-
-/-	1_10	c.= + c.170C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	LGMD-1A	-	JdD	large north American family (German descent)	United States	Caucasian	-	unknown	-	-	1	-	-
-/?	1_10	c.= + c.179C>G	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	United States	-	F	isolated (sporadic)	-	-	1	2x	-
-/?	1_10	c.= + c.179C>G	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	United States	-	M	isolated (sporadic)	-	-	1	2x	-
-/?	1_10	c.= + c.179C>G	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	cardiomyopathy	JdD	-	United States	-	M	familial	-	-	1	normal	-
-/?	1_10	c.= + c.179C>G	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	Spain	-	?	isolated (sporadic)	-	-	1	-	-
-/?	1_10	c.= + c.179C>G	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	cardiomyopathy	JdD	6 affecteds 5 generation family	Spain	-	F / M	unknown	-	-	6	-	-
-/?	1_10	c.= + c.179C>G	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	2 brothers	Spain	-	M /	familial	-	-	2	normal / ?	-
-/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	cardiomyopathy	JdD	-	United States	-	M	isolated (sporadic)	-	-	1	normal	-
-/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	Spain	-	?	isolated (sporadic)	-	-	1	-	-
-/?	1_10	c.= + c.220C>A	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	Spain	-	?	isolated (sporadic)	-	-	1	-	-
-/?	1_10	c.= + c.-251A>G	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	-	-	JdD	MDL/AML patient	Italy	-	-	unknown	-	-	1	-	-
-/?	1_10	c.= + c.284G>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	United States	-	M	unknown	-	-	1	2x	-
-/?	1_10	c.= + c.343G>A	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	-	-	JdD	found in relative of MFM patient	Spain	-	-	unknown	-	-	1	-	-
-/?	1_10	c.= + c.220C>A, c.220C>A, DES (2)	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	progressive cardiac and skeletal myopathy	Bar 2007, JdD	-	France	Africa (N)	-	unknown	-	-	1	-	-
-/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	late-onset, distal lower-limb weakness; thigh and leg muscle atrophy, gait only with support combining bilateral steppage and waddling	JdD	5 generation family; uncle of 17698502.III2	Spain	-	M	unknown	-	-	1	1.5x	-
-/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	late-onset, distal lower-limb weakness; electromyography deltoid, quadriceps, tibialis anterior muscles myopathic pattern	JdD	5 generation family; niece of 17698502.II3	Spain	-	F	unknown	-	-	1	1.5x	-
-/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	late-onset, distal lower-limb weakness	JdD	5 generation family, 3 affecteds	Spain	-	?	unknown	-	-	3	-	-
-/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	-	asymptomatic	JdD	5 generation family, 6 asymptomatic carriers (63y, 50y, 48y, 38y, 27y, 21y)	-	-	?	unknown	-	-	6	-	-
-/-	1_10	c.= + c.(170C>T)	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	LGMD;MFM;SBM	progressive myofibrillar pathology, Z-disc streaming, excess myofibrillar vacuolization, plaque-like myofibrillar aggregation (progressively larger, more numerous with age; extensor digitorum longus muscle exhibits significantly reduced maximum specific isometric force (soleus/diaphragm muscles spared)	JdD	-	-	-	-	unknown	-	-	1	-	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	mild proximal limb weakness, EMG myopathic changes, normal pulmonary function tests and ECG	details MRI see McNeill 2009, JdD	daugther of 19590214-PatAf	(United Kingdom)	-	F	familial	-	-	1	normal	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	distal myopathy	JdD	father of 19590214-PatA	(United Kingdom)	-	M	isolated (sporadic)	-	-	1	-	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	55y-distal leg weakness, marked weakness foot dorsiflexion/plantarflexion, Achilles tendon contractures, normal PFTs, EMG myopathic changes	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	F	isolated (sporadic)	-	-	1	1.5x	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	mild proximal arm/leg weakness, Achilles contractures, weakness long finger flexors	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	F	isolated (sporadic)	-	-	1	1.5x	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	bilateral weakness finger extensors/foot dorsiflexors/plantarflexors, EMG mixed myopathic/neuropathic changes, PFTs/echocardiogram normal	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	M	familial	-	-	1	4x	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	distal arm/leg weakness	JdD	brother of 19590214-PatD	(United Kingdom)	-	M	familial	-	-	1	-	-
?/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	-	-	JdD	child of 19590214-PatD	(United Kingdom)	-	-	familial	-	-	1	-	-
?/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	-	-	JdD	child of 19590214-PatD	(United Kingdom)	-	-	familial	-	-	1	-	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	81y-proximal weakness arms/legs (MRC 4/5), absent dorsiflexion both feet, weak plantarflexion feet (MRC 2/5), EMG mixed myopathic/neuropathic changes	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	F	isolated (sporadic)	-	-	1	normal	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	distal lower limb weakness, ankle dorsiflexion/plantarflexion (MRC 1/5), mild proximal weakness, knee flexion, hip adduction (MRC 3/5), ECG normal, PFTs suggested diaphragmatic weakness with forced vital capacity 64% of predicted (sitting)/ 60% (lying)	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	M	familial	-	-	1	2x	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	late-onset muscle weakness, wheelchair bound 64y	JdD	father of 19590214-PatF	(United Kingdom)	-	M	isolated (sporadic)	-	-	1	-	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	67y-mild weakness wrist extension (MRC 4/5)/elbow flexion (MRC 4/5), marked weakness foot dorsiflexion/plantarflexion bilaterally (MRC 2–3/5)ECG/PFTs normal, EMG mixed myopathic/neuropathic picture	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	F	isolated (sporadic)	-	-	1	normal	-
+/?	1_10	c.= + c.179C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	85y-weak wrist extension (MRC 4/5)/foot dorsiflexion (MRC 1/5), ECG/PFTs normal, EMG mixed myopathic/neuropathic picture	details MRI see McNeill 2009, JdD	mother difficulty walking mid-60s	(United Kingdom)	-	M	isolated (sporadic)	-	-	1	1.5-2x	-
+/?	1_10	c.= + c.1214G>A	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	LGMD-1A	progressive muscle weakness, 50y-difficulty walk long distances, not able to stand up/climb stairs without support, 57y-proximal dominant muscle weakness, esp. neck flexors, iliopsoas, hamstring, quadriceps muscles, facial muscle weakness, waddling gait, decreased deep tendon reflexes	JdD	-	Japan	-	F	familial	-	-	1	-	IHC immunoreactive aggregates MYOT, CRY[alpha]B, ZASP, DES, actin; WB increased MYOT monomer
+/?	1_10	c.= + c.1214G>A	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	LGMD-1A	-	JdD	father of 19458539-Pat1	Japan	-	M	isolated (sporadic)	-	-	1	-	-
+/?	1_10	c.= + c.1214G>A	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	LGMD-1A	original diagnosis sporadic inclusion body myositis	JdD	elder sister of 19458539-Pat1	Japan	-	F	familial	-	-	1	>2x	-
+/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	generalized muscle pseudo-hypertrophy, stiffness; 53y-slowly progressive gait difficulty, muscule weakness lower limbs/less upper extremities, muscle pain, stiffness when walking, unable to walk >20m without rest, severe difficulty climbing/descending stairs, rising from chair, getting in/out vehicles	details see Gamez 2009, JdD	-	Spain	-	M	familial	-	-	1	normal	-
+/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	gait disorder similar to son	details see Gamez 2009, JdD	father of 19027924-Pat1	Spain	-	M	isolated (sporadic)	-	-	1	-	-
+/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	52y-acute myocardial infarction; 55y-Herculean appearance, normal muscle strength/nerve conduction, EMG myopathicdeltoid, vastus medialis, rectus femoris, tibialis anterior muscles without complex repetitive discharges.	details see Gamez 2009, JdD	brother of 19027924-Pat1	Spain	-	M	familial	-	-	1	-	-
+/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	EMG myopathy	details see Gamez 2009, JdD	aunt of 19027924-Pat1	Spain	-	F	familial	-	-	1	-	-
+/?	1_10	c.= + c.164C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	MYOT	-	see also Penisson-Besniers 1998, JdD	3-generation family, 4 affecteds, 2 asymptomatic carriers	France	-	?	familial	-	-	6	1-2x	-
-/-	1_10	c.= + c.170C>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	LGMD1A	proximal and distal weakenss (LE>UE); facial weakness	United States:Marshfield, WI	-	United States	Caucasian	M	unknown	-	-	1	elevated	-
-/-	1_10	c.= + c.1413G>T	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	LGMD1A	limb girdle weakness	United States:Marshfield, WI	-	United States	-	-	unknown	-	-	1	-	-
+/?	2	c.106A>G	-	r.(?)	p.(Lys36Glu)	MYOT_00012	control chromosomes	germline (inherited)	Olive 2005	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	Spain	-	?	isolated (sporadic)	-	-	1	-	-
+/?	2	c.106A>G	-	r.(?)	p.(Lys36Glu)	MYOT_00012	control chromosomes	germline (inherited)	Olive 2005	DNA	SEQ	0/200	-	-	-	JdD	-	Spain	-	-	unknown	-	-	1	-	-
+/?	2	c.116C>T	-	r.(?)	p.(Ser39Phe)	MYOT_00011	control chromosomes	germline (inherited)	Foroud 2005, (OMIM 0006)	DNA	SEQ	-	BbsI-	MYOT	phenotype called SBM (spheroid body myopathy)	Goebel 1974, JdD	21 affecteds and 5 at-risk large 5-generation family; genome scan 5q31-linked D5S2117	United States	-	-	unknown	-	-	21	-	-
+/?	2	c.116C>T	-	r.(?)	p.(Ser39Phe)	MYOT_00011	control chromosomes	germline (inherited)	Foroud 2005, (OMIM 0006)	DNA	SEQ	0/270	BbsI-	-	-	JdD	-	United States	-	-	unknown	-	-	1	-	-
+/?	2	c.116C>T	-	r.(?)	p.(Ser39Phe)	MYOT_00011	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	2	c.149A>G + c.=	-	r.(?)	p.(Gln50Arg)	MYOT_00010	-	germline (inherited)	Godley 1999	DNA	SEQ, SSCA	-	-	-	-	JdD	MDL/AML patient	Italy	-	-	unknown	-	-	1	-	-
+/?	2	c.164C>T + c.=	-	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Hauser 2002, (OMIM 0002)	DNA	DHPLC	-	-	LGMD-1A	-	JdD	4 affecteds 3-generation family	Argentina	-	-	familial	-	-	4	5x-15x	-
+/?	2	c.164C>T + c.=	-	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Selcen 2004, (OMIM 0002)	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	cardiomyopathy	JdD	affected son and brother	United States	-	F	familial	-	-	2	normal	-
+/?	2	c.164C>T + c.=	-	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Olive 2005	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	3 unrelated sporadic patients	Spain	-	-	isolated (sporadic)	-	-	3	-	-
+/?	2	c.164C>T + c.=	-	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Olive 2005	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	8 affected 4 generation family	Spain	-	-	unknown	-	-	8	2x	-
+/?	2	c.164C>T + c.=	-	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Berciano 2008	DNA	SEQ	-	-	MYOT	late-onset, distal lower-limb weakness; thigh and leg muscle atrophy, gait only with support combining bilateral steppage and waddling	JdD	5 generation family; uncle of 17698502.III2	Spain	-	M	unknown	-	-	1	1.5x	-
+/?	2	c.164C>T + c.=	-	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Berciano 2008	DNA	SEQ	-	-	MYOT	late-onset, distal lower-limb weakness; electromyography deltoid, quadriceps, tibialis anterior muscles myopathic pattern	JdD	5 generation family; niece of 17698502.II3	Spain	-	F	unknown	-	-	1	1.5x	-
?/?	2	c.164C>T + c.=	-	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Berciano 2008	DNA	SEQ	-	-	MYOT	late-onset, distal lower-limb weakness	JdD	5 generation family, 3 affecteds	Spain	-	?	unknown	-	-	3	-	-
?/?	2	c.164C>T + c.=	-	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Berciano 2008	DNA	SEQ	-	-	-	asymptomatic	JdD	5 generation family, 6 asymptomatic carriers (63y, 50y, 48y, 38y, 27y, 21y)	-	-	?	unknown	-	-	6	-	-
+/?	2	c.164C>T	-	r.(?)	p.(Ser55Phe)	MYOT_00003	control chromosomes	germline (inherited)	Hauser 2002, (OMIM 0002)	DNA	DHPLC	0/392	-	-	-	JdD	-	Argentina	-	-	unknown	-	-	1	-	-
+/?	2	c.164C>T + c.=	444C>T	r.(?)	p.(Ser55Phe)	MYOT_00003	not in 200 control chromosomes	germline (inherited)	Gamez 2009	DNA	SEQ	-	-	MYOT	generalized muscle pseudo-hypertrophy, stiffness; 53y-slowly progressive gait difficulty, muscule weakness lower limbs/less upper extremities, muscle pain, stiffness when walking, unable to walk >20m without rest, severe difficulty climbing/descending stairs, rising from chair, getting in/out vehicles	details see Gamez 2009, JdD	-	Spain	-	M	familial	-	-	1	normal	-
+/?	2	c.164C>T + c.=	444C>T	r.(?)	p.(Ser55Phe)	MYOT_00003	not in 200 control chromosomes	germline (inherited)	Gamez 2009	DNA	SEQ	-	-	MYOT	gait disorder similar to son	details see Gamez 2009, JdD	father of 19027924-Pat1	Spain	-	M	isolated (sporadic)	-	-	1	-	-
+/?	2	c.164C>T + c.=	444C>T	r.(?)	p.(Ser55Phe)	MYOT_00003	not in 200 control chromosomes	germline (inherited)	Gamez 2009	DNA	SEQ	-	-	MYOT	52y-acute myocardial infarction; 55y-Herculean appearance, normal muscle strength/nerve conduction, EMG myopathicdeltoid, vastus medialis, rectus femoris, tibialis anterior muscles without complex repetitive discharges.	details see Gamez 2009, JdD	brother of 19027924-Pat1	Spain	-	M	familial	-	-	1	-	-
+/?	2	c.164C>T + c.=	444C>T	r.(?)	p.(Ser55Phe)	MYOT_00003	not in 200 control chromosomes	germline (inherited)	Gamez 2009	DNA	SEQ	-	-	MYOT	EMG myopathy	details see Gamez 2009, JdD	aunt of 19027924-Pat1	Spain	-	F	familial	-	-	1	-	-
+/?	2	c.164C>T + c.=	444C>T	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Penisson-Besniers 2006	DNA	SEQ	-	-	MYOT	-	see also Penisson-Besniers 1998, JdD	3-generation family, 4 affecteds, 2 asymptomatic carriers	France	-	?	familial	-	-	6	1-2x	-
+/?	2	c.(170C>T) + c.=	450C>T	r.170c>u	p.Thr57Ile	MYOT_00000	transgenic mouse expressing MYOT under control human skeletal actin promoter; protein properly localizes to Z-disc	germline (inherited)	Garvey 2006	DNA, RNA	RT-PCR, SSCA, SEQ	-	-	LGMD;MFM;SBM	progressive myofibrillar pathology, Z-disc streaming, excess myofibrillar vacuolization, plaque-like myofibrillar aggregation (progressively larger, more numerous with age; extensor digitorum longus muscle exhibits significantly reduced maximum specific isometric force (soleus/diaphragm muscles spared)	JdD	-	-	-	-	unknown	-	-	1	-	-
?/?	2	c.170C>T + 75 others	-	r.(?)	p.(Thr57Ile)	MYOT_00001	-	germline (inherited)	dbSNP-rs28937597	DNA	SEQ	-	-	-	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	2	c.170C>T + c.=	450C>T	r.170c>u	p.Thr57Ile	MYOT_00001	not in control chromosomes (0/396 USA, 0/200 Finland, 0/60 Japan)	germline (inherited)	Hauser 2000, (OMIM 0001)	DNA, RNA	RT-PCR, SSCA, SEQ	-	-	LGMD-1A	-	JdD	large north American family (German descent)	United States	Caucasian	-	unknown	-	-	1	-	-
+/?	2	c.170C>T + c.=	-	r.(?)	p.(Thr57Ile)	MYOT_00001	-	germline (inherited)	-	DNA	PCR, SEQ	-	-	LGMD1A	proximal and distal weakenss (LE>UE); facial weakness	United States:Marshfield, WI	-	United States	Caucasian	M	unknown	-	-	1	elevated	-
+/?	2	c.179C>G + c.=	459C>G	r.(?)	p.(Ser60Cys)	MYOT_00007	-	germline (inherited)	Selcen 2004, (OMIM 0003)	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	United States	-	F	isolated (sporadic)	-	-	1	2x	-
+/?	2	c.179C>G + c.=	459C>G	r.(?)	p.(Ser60Cys)	MYOT_00007	-	germline (inherited)	Selcen 2004, (OMIM 0003)	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	United States	-	M	isolated (sporadic)	-	-	1	2x	-
+/?	2	c.179C>G + c.=	459C>G	r.(?)	p.(Ser60Cys)	MYOT_00007	-	germline (inherited)	Selcen 2004, (OMIM 0003)	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	cardiomyopathy	JdD	-	United States	-	M	familial	-	-	1	normal	-
+/?	2	c.179C>G + c.=	-	r.(?)	p.(Ser60Cys)	MYOT_00007	-	germline (inherited)	Olive 2005	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	Spain	-	?	isolated (sporadic)	-	-	1	-	-
+/?	2	c.179C>G + c.=	-	r.(?)	p.(Ser60Cys)	MYOT_00007	-	germline (inherited)	Olive 2005	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	cardiomyopathy	JdD	6 affecteds 5 generation family	Spain	-	F / M	unknown	-	-	6	-	-
+/?	2	c.179C>G + c.=	-	r.(?)	p.(Ser60Cys)	MYOT_00007	-	germline (inherited)	Olive 2005	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	2 brothers	Spain	-	M /	familial	-	-	2	normal / ?	-
+/?	2	c.179C>T + c.=	459C>T	r.(?)	p.(Ser60Phe)	MYOT_00008	-	germline (inherited)	Selcen 2004, (OMIM 0004)	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	cardiomyopathy	JdD	-	United States	-	M	isolated (sporadic)	-	-	1	normal	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	-	germline (inherited)	Olive 2005	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	Spain	-	?	isolated (sporadic)	-	-	1	-	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	mild proximal limb weakness, EMG myopathic changes, normal pulmonary function tests and ECG	details MRI see McNeill 2009, JdD	daugther of 19590214-PatAf	(United Kingdom)	-	F	familial	-	-	1	normal	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	-	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	distal myopathy	JdD	father of 19590214-PatA	(United Kingdom)	-	M	isolated (sporadic)	-	-	1	-	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	55y-distal leg weakness, marked weakness foot dorsiflexion/plantarflexion, Achilles tendon contractures, normal PFTs, EMG myopathic changes	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	F	isolated (sporadic)	-	-	1	1.5x	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	mild proximal arm/leg weakness, Achilles contractures, weakness long finger flexors	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	F	isolated (sporadic)	-	-	1	1.5x	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	bilateral weakness finger extensors/foot dorsiflexors/plantarflexors, EMG mixed myopathic/neuropathic changes, PFTs/echocardiogram normal	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	M	familial	-	-	1	4x	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	-	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	distal arm/leg weakness	JdD	brother of 19590214-PatD	(United Kingdom)	-	M	familial	-	-	1	-	-
?/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	-	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	-	-	JdD	child of 19590214-PatD	(United Kingdom)	-	-	familial	-	-	1	-	-
?/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	-	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	-	-	JdD	child of 19590214-PatD	(United Kingdom)	-	-	familial	-	-	1	-	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	81y-proximal weakness arms/legs (MRC 4/5), absent dorsiflexion both feet, weak plantarflexion feet (MRC 2/5), EMG mixed myopathic/neuropathic changes	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	F	isolated (sporadic)	-	-	1	normal	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	distal lower limb weakness, ankle dorsiflexion/plantarflexion (MRC 1/5), mild proximal weakness, knee flexion, hip adduction (MRC 3/5), ECG normal, PFTs suggested diaphragmatic weakness with forced vital capacity 64% of predicted (sitting)/ 60% (lying)	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	M	familial	-	-	1	2x	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	-	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	late-onset muscle weakness, wheelchair bound 64y	JdD	father of 19590214-PatF	(United Kingdom)	-	M	isolated (sporadic)	-	-	1	-	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	67y-mild weakness wrist extension (MRC 4/5)/elbow flexion (MRC 4/5), marked weakness foot dorsiflexion/plantarflexion bilaterally (MRC 2–3/5)ECG/PFTs normal, EMG mixed myopathic/neuropathic picture	details MRI see McNeill 2009, JdD	-	(United Kingdom)	-	F	isolated (sporadic)	-	-	1	normal	-
+/?	2	c.179C>T + c.=	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	McNeill 2009	DNA	SEQ	-	-	MYOT	85y-weak wrist extension (MRC 4/5)/foot dorsiflexion (MRC 1/5), ECG/PFTs normal, EMG mixed myopathic/neuropathic picture	details MRI see McNeill 2009, JdD	mother difficulty walking mid-60s	(United Kingdom)	-	M	isolated (sporadic)	-	-	1	1.5-2x	-
+/?	2	c.179C>T + c.220C>A	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	Claeys 2008	DNA	SEQ	-	-	MYOT	-	details EM see Claeys 2008, JdD	-	-	-	M	unknown	-	-	1	-	-
+/?	2	c.179C>T + c.220C>A	-	r.(?)	p.(Ser60Phe)	MYOT_00008	unrelated patients	germline (inherited)	Claeys 2008	DNA	SEQ	-	-	MYOT	-	details EM see Claeys 2008, JdD	-	-	-	M	unknown	-	-	1	-	-
+/?	2	c.220C>A + c.=	-	r.(?)	p.(Gln74Lys)	MYOT_00013	-	germline (inherited)	Olive 2005	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	-	JdD	-	Spain	-	?	isolated (sporadic)	-	-	1	-	-
?/?	2	c.220C>A + c.=, c.220C>A, DES (2)	-	r.(?)	p.(Gln74Lys)	MYOT_00013	-	germline (inherited)	Bar 2007	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	progressive cardiac and skeletal myopathy	Bar 2007, JdD	-	France	Africa (N)	-	unknown	-	-	1	-	-
?/?	2	c.220C>A + c.=, c.220C>A, DES (2)	-	r.(?)	p.(Gln74Lys)	MYOT_00013	-	germline (inherited)	Bar 2007	DNA	SEQ	-	-	myopathy, myofibrillar (MFM)	progressive cardiac and skeletal myopathy	Bar 2007, JdD	-	France	Africa (N)	-	unknown	-	-	1	-	-

1 - 100
[<-] 1 2 [->]

Legend: [ MYOT 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 MYOT 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

Myotilin (Titin immunoglobulin domain) (MYOT)