Autosomal dominant Charcot-Marie-Tooth disease type 2M

Synonyms

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M; Charcot-Marie-Tooth disease, type 2M

Modes of inheritance

Autosomal dominant inheritance

Autosomal dominant inheritance

MedGen UID: 141047, Concept ID: C0443147, Intellectual Product

Source: Orphanet

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

(Orphanet)