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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Vydáno v:J Clin Neuromuscul Dis
Hlavní autoři: Gass, Jennifer, Blackburn, Patrick, Jackson, Jessica, Harris, Kimberly, Selcen, Duygu, Dimberg, Elliot, Atwal, Paldeep
Médium: Artigo
Jazyk:Inglês
Vydáno: Journal of Clinical Neuromuscular Disease 2017
Témata:
Case Review
On-line přístup: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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