Ontology highlight
ABSTRACT:
SUBMITTER: Hirano M
PROVIDER: S-EPMC1377320 | biostudies-other | 1998 Aug
REPOSITORIES: biostudies-other
American journal of human genetics 19980801 2
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Laboratory studies reveal defects of oxidative-phosphorylation and multiple mtDNA deletions frequently in skeletal muscle. We studied four ethnically distinct families affected with this apparently autosomal recessive disorder. Probands fr ...[more]