title: Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.
abstract: 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 his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy. Follow-up genetic testing revealed a p.Glu384Lys pathogenic variant in TIA-1, and he was then diagnosed with Welander distal myopathy. Our case report underlines the importance of electrodiagnostic and genetic testing of patients.
authors.affiliation: *Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL; †Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL; ‡Department of Neurology, Mayo Clinic, Rochester, MN; and §Department of Neurology, Mayo Clinic, Jacksonville, FL.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Gass
authors.forename: Patrick
authors.initials: P
authors.lastname: Blackburn
authors.forename: Jessica
authors.initials: J
authors.lastname: Jackson
authors.forename: Kimberly
authors.initials: K
authors.lastname: Harris
authors.forename: Duygu
authors.initials: D
authors.lastname: Selcen
authors.forename: Elliot
authors.initials: E
authors.lastname: Dimberg
authors.forename: Paldeep
authors.initials: P
authors.lastname: Atwal
mesh_terms: D049310:Distal Myopathies / Q000175:diagnosis* / Q000235:genetics; D004568:Electrodiagnosis; D059472:Exome; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation