OBO ID: DOID:0080308 |
Term Name: | myofibrillar myopathy 8 | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0080308 ) |
OTHER myofibrillar myopathy 8 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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