Ontology highlight
ABSTRACT:
SUBMITTER: Morino H
PROVIDER: S-EPMC4248451 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Morino Hiroyuki H Pierce Sarah B SB Matsuda Yukiko Y Walsh Tom T Ohsawa Ryosuke R Newby Marta M Hiraki-Kamon Keiko K Kuramochi Masahito M Lee Ming K MK Klevit Rachel E RE Martin Alan A Maruyama Hirofumi H King Mary-Claire MC Kawakami Hideshi H
Neurology 20141029 22
<h4>Objective</h4>To identify the genetic cause in 2 families of progressive ataxia, axonal neuropathy, hyporeflexia, and abnormal eye movements, accompanied by progressive hearing loss and ovarian dysgenesis, with a clinical diagnosis of Perrault syndrome.<h4>Methods</h4>Whole-exome sequencing was performed to identify causative mutations in the 2 affected sisters in each family. Family 1 is of Japanese ancestry, and family 2 is of European ancestry.<h4>Results</h4>In family 1, affected individ ...[more]