Article
X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study.
Muscle & nerve - 1 Mar 1992
Ionasescu V V, Trofatter J, Haines J L, Summers A M, Ionasescu R, Searby C
Abstract excerpt
We describe three families with X-linked recessive Charcot-Marie-Tooth (CMT) neuropathies. The disease phenotype in family 1 was characterized by infantile onset, weakness of lower legs, areflexia, pes cavus, and mental retardation (2 of 5 patients). The disease phenotype in families 2 and 3 was characterized by late onset, distal weakness, and normal intelligence. Hereditary spastic paraparesis was also present...
Topics
- Charcot-Marie-Tooth Disease
- Chromosome Mapping
- Female
- Genes, Recessive
- Genetic Markers
- Humans
- Male
- Pedigree
- Phenotype
- X Chromosome