Vocal Cord & Pharyngeal Weakness (MPD2; VCPDM; ALS21; MSP5)
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Overview
From WUSTL Neuromuscular● Nosology Multisystem proteinopathy 5 (MSP5) Reclassified as ALS21 Epidemiology: 16 families Genetics 22 Mutation: Ser85Cys Allelic disorders Familial ALS 21, Dominant Fronto-Temporal Dementia Mutation: Retrotransposed Full-Length Transcript of Matrin-3 Variant 5 Matrin 3 protein 46 Cell location Nuclear matrix Inner face of nuclear envelope May move to cytoplasm in diseased cells Tissue expression: Muscle & Other tissues Contains RNA-DNA binding motif Interacts with Proteins: TDP-43; DHX9 ; PABN1 DNA sequences: Repetitive; Adenine/Thymine-rich RNA: RNA stabilized by MATR3 binding Self associ
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.