Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.
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ABSTRACT:
SUBMITTER: Gass J
PROVIDER: S-EPMC5325240 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Publications
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.
Gass Jennifer J Blackburn Patrick P Jackson Jessica J Harris Kimberly K Selcen Duygu D Dimberg Elliot E Atwal Paldeep P
Journal of clinical neuromuscular disease 20170301 3
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 translation of mRNA. Our patient developed progressive weakness in his hands and feet during ...[more]
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