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myofibrillar myopathy 8
Summary
- 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.
- Super Class
- autosomal recessive disease myofibrillar myopathy
External Links
- Disease Ontology
- DOID:0080308
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WU10 | Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 |
