Alternative titles; symbolsCHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:9,600,000-17,400...
Alternative titles; symbols
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.
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).