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ID | DOID:0080308 |
Name | myofibrillar myopathy 8 |
Definition | A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy, https://www.omim.org/entry/617258 |
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