CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2

Alternative titles; symbols

• CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:9,600,000-17,400,000

▼ Clinical Features
Ionasescu et al. (1991, 1992) studied 3 families with X-linked recessive Charcot-Marie-Tooth neuropathy of the type reported by Erwin (1944). The phenotype of family 1 was characterized by onset in infancy, atrophy and weakness of lower leg muscles, areflexia, and pes cavus in males. Two of 5 patients had mental retardation. Electrophysiologic studies were consistent with both demyelination and axonal involvement. Carrier females were unaffected.

▼ Mapping
In family 1, Ionasescu et al. (1991, 1992) found tight linkage to DNA markers at Xp22.2. The other 2 families showed linkage to Xq26 (see 302802).