Ontology highlight
ABSTRACT:
SUBMITTER: Piscosquito G
PROVIDER: S-EPMC5592964 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Piscosquito Giuseppe G Saveri Paola P Magri Stefania S Ciano Claudia C Gandioli Claudia C Morbin Michela M Bella Daniela D DD Moroni Isabella I Taroni Franco F Pareyson Davide D
Journal of the peripheral nervous system : JPNS 20160901 3
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutations, characterized by early onset, spine deformities, and cranial nerve involvement. We screened 43 CMT4 patients (36 index cases) with AR inheritance, demyelinating nerve conductions, and negative testing for PMP22 duplication, GJB1 and MPZ mutations, for SH3TC2 mutations. Twelve patients (11 index cases) had CMT4C as they carried homozygous or compound heterozygous mut ...[more]