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Article

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.

Journal of clinical neuromuscular disease - 1 Mar 2017

Gass Jennifer, Blackburn Patrick, Jackson Jessica, Harris Kimberly, Selcen Duygu, Dimberg Elliot, Atwal Paldeep

Abstract excerpt

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-binding protein which serves as a key component of stress granules. This protein also regulates splicing and...

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PMID: 28221306
DOI: 10.1097/CND.0000000000000164
PMCID: PMC5325240

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Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.PMID 28221306Read ↗

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