Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
Recent work has identified the genes and mutational mechanisms that underlie several inherited diseases of the peripheral nervous system and has provided both the first genetic rationale for classification of these disorders and an insight into their biological basis. These studies have yielded some surprising findings, including the discovery that two very different mutational mechanisms (duplication and point mutation) can result in a similar clinical phenotype in Charcot-Marie-Tooth disease type 1A, and that mutations involving the same gene can give rise to different clinical phenotypes.
Patel
P I
PI
Department of Neurology, Baylor College of Medicine, Houston, TX 77030.
Lupski
J R
JR
D000595:Amino Acid Sequence; D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D004195:Disease Models, Animal; D005786:Gene Expression Regulation; D006801:Humans; D051379:Mice; D008818:Mice, Neurologic Mutants / Q000235:genetics; D008957:Models, Genetic; D008969:Molecular Sequence Data; D005810:Multigene Family; D018993:Myelin P0 Protein; D009185:Myelin Proteins / Q000737:chemistry / Q000235:genetics*; D010641:Phenotype; D015995:Prevalence; D011487:Protein Conformation; D051381:Rats; D014960:X Chromosome
D018993:Myelin P0 Protein; D009185:Myelin Proteins; C073687:PMP22 protein, human; C489545:Pmp22 protein, mouse; C489546:Pmp22 protein, rat