OBO ID: DOID:0111273
Term Name: NARP syndrome Search Ontology:
Synonyms:
  • Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
  • neuropathy, ataxia and retinitis pigmentosa
  • Neuropathy-ataxia-retinitis pigmentosa syndrome
Definition: A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. https://www.ncbi.nlm.nih.gov/pubmed/2137962
References:
Ontology: Human Disease   ( DOID:0111273 )
OTHER NARP syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None