%302801
Table of Contents
Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38) : X:9,600,001-17,400,000
For a phenotypic description and discussion of genetic heterogeneity of X-linked CMT, see CMTX1 (302800).
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.
Erwin, W. G. A pedigree of sex-linked recessive peroneal atrophy. J. Hered. 35: 24-26, 1944.
Ionasescu, V. V., Trofatter, J., Haines, J. L., Summers, A. M., Ionasescu, R., Searby, C. Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. Am. J. Hum. Genet. 48: 1075-1083, 1991. [PubMed: 1674639, related citations]
Ionasescu, V. V., Trofatter, J., Haines, J. L., Summers, A. M., Ionasescu, R., Searby, C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve 15: 368-373, 1992. [PubMed: 1557086, related citations] [Full Text]
Alternative titles; symbols
SNOMEDCT: 763457000; ORPHA: 101076; DO: 0110208;
Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38) : X:9,600,001-17,400,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xp22.2 | Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 | 302801 | X-linked recessive | 2 |
For a phenotypic description and discussion of genetic heterogeneity of X-linked CMT, see CMTX1 (302800).
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).
Erwin, W. G. A pedigree of sex-linked recessive peroneal atrophy. J. Hered. 35: 24-26, 1944.
Ionasescu, V. V., Trofatter, J., Haines, J. L., Summers, A. M., Ionasescu, R., Searby, C. Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. Am. J. Hum. Genet. 48: 1075-1083, 1991. [PubMed: 1674639]
Ionasescu, V. V., Trofatter, J., Haines, J. L., Summers, A. M., Ionasescu, R., Searby, C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve 15: 368-373, 1992. [PubMed: 1557086] [Full Text: https://doi.org/10.1002/mus.880150317]
Dear OMIM User,
To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.
Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM