Distal infantile spinal muscular atrophy with diaphragm paralysis (HMNR1; DSMA1; SMARD1; HMN 6)
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Overview
From WUSTL Neuromuscular● Epidemiology > 50 patients Up to 1% of early onset SMA IGHMBP2 genetics Mutations: Missense; Nonsense; Frameshift deletion (exon 5) & Splice donor-site Allelic disorders DSMA1 (SMARD1; HMN6) SMARD, milder AR-CMT2S IGHMBP2 protein 66 Transcription factor: DNA binding protein ATP-dependent 5' --> 3' helicase: Separates double-stranded RNA & DNA Regulates: DNA replication, Pre-mRNA splicing, Transcription ± Translation Localization Similar to SMN1 protein Co-localization RNA-processing machinery in both cytoplasm and nucleus Ribosomes Tissue distribution: Widespread Mutations: Impair ATPase & H
Associated Genes
Other genes: CMT2S, CMT2, ASIAN, MB, SKELETAL
OMIM Entries
Related Conditions
Shared genesExternal Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.