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distal myopathy 3
Summary
- Synonym
-
- MPD3
- distal muscular dystrophy 3
- distal myopathy type 3
- Definition
- A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.
- Super Class
- autosomal dominant disease distal myopathy
External Links
- Disease Ontology
- DOID:0111189
- Mondo Disease Ontology
- ORDO
- OMIM
