Ontology highlight
ABSTRACT:
SUBMITTER: Horga A
PROVIDER: S-EPMC6501639 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Horga Alejandro A Bugiardini Enrico E Manole Andreea A Bremner Fion F Jaunmuktane Zane Z Dankwa Lois L Rebelo Adriana P AP Woodward Catherine E CE Hargreaves Iain P IP Cortese Andrea A Pittman Alan M AM Brandner Sebastian S Polke James M JM Pitceathly Robert D S RDS Züchner Stephan S Hanna Michael G MG Scherer Steven S SS Houlden Henry H Reilly Mary M MM
Neurology. Genetics 20190401 2
<h4>Objective</h4>To characterize the phenotype in individuals with <i>OPA3</i>-related autosomal dominant optic atrophy and cataract (ADOAC) and peripheral neuropathy (PN).<h4>Methods</h4>Two probands with multiple affected relatives and one sporadic case were referred for evaluation of a PN. Their phenotype was determined by clinical ± neurophysiological assessment. Neuropathologic examination of sural nerve and skeletal muscle, and ultrastructural analysis of mitochondria in fibroblasts were ...[more]