Ontology highlight
ABSTRACT:
SUBMITTER: Motley WW
PROVIDER: S-EPMC7413632 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Motley William W WW Züchner Stephan S Scherer Steven S SS
Neurology. Genetics 20200731 5
<h4>Objective</h4>To determine the genetic cause of axonal Charcot-Marie-Tooth disease in a small family with 2 affected siblings, one of whom had cerebellar features on examination.<h4>Methods</h4>Whole-exome sequencing of genomic DNA and analysis for recessively inherited mutations; PCR-based messenger RNA/complementary DNA analysis of transcripts to characterize the effects of variants identified by exome sequencing.<h4>Results</h4>We identified compound heterozygous mutations in dystonin (<i ...[more]