Analysis of the pathogenesis of vocal cord and pharyngeal weakness with distal myopathy

Knockdown of genes involved in axonal transport enhances the toxicity of human neuromuscular disease‐linked MATR3 mutations in Drosophila

“…Since these mutations do not reside in the functional domains of MATR3, it is difficult to predict how they might affect MATR3 function. The S85C mutation in MATR3 was first identified in families with autosomal dominant vocal cord and pharyngeal distal myopathy (VCPDM) [25,[29][30][31]. Some patients with the S85C mutation were later reclassified as having ALS, and several novel mutations including F115C and T622A were identified via exome sequencing of familial ALS patients [7].…”