Welander (Late onset type I) Distal Myopathy
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Overview
From WUSTL Neuromuscular● Epidemiology Especially common: Mid-Sweden & Finland gene frequency 1/4000 Penetrance: Relatively low due to late age of onset Genetics 10 Mutation: Glu384Lys Finnish & Swedish patients have shared haplotype Homozygotes: Weakness is more severe & proximal Allelic disorders ALS-FTD (ALS 26) Digenic Distal myopathy 53 TIA1 mutation: Asn357Ser SQSTM1 mutation: Pro392Leu most common MYH7 related myopathies: Asn357Ser TIA1 protein (Nucleolysin TIA-1 isoform p40) Nucleic acid-binding protein: Preferentially recognizes poly(A) homopolymers Induces DNA fragmentation in permeabilized thymocytes Compo
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.