Inclusion Body Myopathy with Paget disease of Bone & Dementia 1 (IBMPFD1)
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Overview
From WUSTL Neuromuscular● Nosology: Multisystem proteinopathy 1 (MSP1) Epidemiology Worldwide: > 70 families Male = Female Genetics 12 Mutations Missense > 66 different Several involve same amino acid residue Locations N-terminal: Exons 1 to 6; N-, L1, or D1-ATPase domains Hotspot: Arginine 155 Arg95G; Ile126Phe; P137L; Arg155C; Arg155H; Arg155Leu; Arg155P; Arg155S;G156S; G157Arg; R159H; Leu198Trp; Arg191Gln; A232E; A439S Clinical genetic correlations Arg93Cys: Later disease onset; Most with Myopathy + PDB or FTD 52 R155C: Frontotemporal dementia with Intraneuronal Inclusions Arg159His: Interfamily variability Onset
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.