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Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient
Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-bi...
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| Publicat a: | J Clin Neuromuscul Dis |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Journal of Clinical Neuromuscular Disease
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5325240/ https://ncbi.nlm.nih.gov/pubmed/28221306 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/CND.0000000000000164 |
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