- Abstract:
-
Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed linkage analysis, whole-exome and whole-genome sequencing to determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness. We identify ALG14 and ALG2 as novel genes in which mutations cause a congenital myasthenic syndrome. Through...
Expand abstract - Publisher copy:
- 10.1093/brain/awt010
-
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- Journal:
- Brain
- Volume:
- 136
- Issue:
- 3
- Pages:
- 944-956
- Publication date:
- 2013-03-01
- DOI:
- EISSN:
-
1460-2156
- ISSN:
-
0006-8950
- URN:
-
uuid:073af3d4-9ea3-4f0d-8849-f8ca20c728d9
- Source identifiers:
-
394099
- Local pid:
- pubs:394099
- Copyright date:
- 2013
Journal article
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
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