| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0025244) |
| Phenotype |
myopathy, nemaline |
| Phenotype additional |
40y-respiratory problems exertional/nocturnal; 54y-pulmonological workup hypercapnic respiratory failure, severe restriction vital capacity, moderate restriction total lung capacity; nocturnal continuous positive airway pressure ventilation initiated; cardiological investigations normal; 54y-muscle biopsy myopathic features, type 1-fiber predominance; 57y-long face, mild facial weakness, high arched palate, slender build, generalized muscle weakness/wasting accentuated in proximal muscle groups, winging of both scapulae and moderate thoracic scoliosis; no swallowing difficulties |
| Reference |
JdD |
| Remarks |
sister died from sudden cardiac arrest 27y, 5 other siblings lack any neuromuscular symptoms |
| Geographic origin |
Germany |
| Ethnic origin |
- |
| Gender |
F |
| Inheritance |
isolated (sporadic) |
| Consanguinity |
no |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
normal |
| Protein data |
- |
| Submitter |
Johan den Dunnen |
| Variant data |
| Allele |
Parent #1 |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
4 |
| DNA change |
c.466G>A (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
- |
| RNA change |
- |
| Protein change |
p.(Ala156Thr) |
| Variant remarks |
not in 218 control chromosomes |
| Genet_ori |
unknown |
| DB-ID |
TPM3_00016 |
| Reference |
Kiphuth 2010 |
| Template |
DNA |
| Technique |
SEQ |
| Frequency |
- |
| RE-site |
- |
|
