Ontology highlight
ABSTRACT:
SUBMITTER: Landoure G
PROVIDER: S-EPMC2812627 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Nature genetics 20091227 2
Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant linkage to chromosome 12q24.11. We sequenced all genes in this region and identified two heterozygous missense mutations in the TRPV4 gene, C805T and G806A, resulting in the amino acid substitutions R269C and R269H. TRPV4 is a well-known member of the TRP superfamily of cation channels. In TRPV4-transf ...[more]