Ontology highlight
ABSTRACT:
SUBMITTER: Morena J
PROVIDER: S-EPMC6679156 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Morena Jonathan J Gupta Anirudh A Hoyle J Chad JC
International journal of molecular sciences 20190712 14
Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with CMT, reflecting the heterogeneity of this disorder. Next generation sequencing (NGS) has expanded and simplified the diagnostic yield of genes/molecules underlying and/or associated with CMT, which is ...[more]