OBO ID: DOID:0080090
Term Name: reducing body myopathy 1A Search Ontology:
Synonyms:
Definition: A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/17099882/
References:
Ontology: Human Disease   ( DOID:0080090 )
Relationships
is a type of:
OTHER reducing body myopathy 1A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FHL1 Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset 300717
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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