OBO ID: DOID:0080091
Term Name: obsolete spheroid body myopathy Search Ontology:
Synonyms:
Definition: A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/16380616/
References:
Ontology: Human Disease   ( DOID:0080091 )
Obsolete: true
Relationships
OTHER obsolete spheroid body myopathy PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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