Ontology highlight
ABSTRACT:
SUBMITTER: Kazamel M
PROVIDER: S-EPMC5121360 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Molecular genetics and metabolism reports 20141008
A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of <i>OPA1</i> in the pathogenesis of spastic paraparesis, so far reported only in very few cases, and it adds intestinal dysmotility to the spectrum of adult-onset clinical manifestation of <i>OPA1</i>-associated disease. ...[more]