Charcot-Marie-Tooth disease: a new paradigm for th...[Trends Genet. 1994]

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1: Trends Genet. 1994 Apr;10(4):128-33.Links

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.

Patel PI, Lupski JR.

Department of Neurology, Baylor College of Medicine, Houston, TX 77030.

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.

PMID: 7518101 [PubMed - indexed for MEDLINE]

ReviewGenetic basis of inherited peripheral neuropathies.
Hum Mutat. 1994; 3(2):95-102.

[Hum Mutat. 1994]
ReviewCharcot-Marie-Tooth disease and related inherited neuropathies.
Medicine (Baltimore). 1996 Sep; 75(5):233-50.

[Medicine (Baltimore). 1996]
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
Nat Genet. 1992 Dec; 2(4):288-91.

[Nat Genet. 1992]
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Nat Genet. 1992 Jun; 1(3):159-65.

[Nat Genet. 1992]
ReviewMolecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition.
Am J Med Sci. 1993 Sep; 306(3):177-84.

[Am J Med Sci. 1993]
» See reviews... | » See all...

Cited by 17 PubMed Central articles

2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
Lupski JR. Am J Hum Genet. 2003 Feb; 72(2):246-52.

[Am J Hum Genet. 2003]
Exposure at the cell surface is required for gas3/PMP22 To regulate both cell death and cell spreading: implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases.
Brancolini C, Edomi P, Marzinotto S, Schneider C. Mol Biol Cell. 2000 Sep; 11(9):2901-14.

[Mol Biol Cell. 2000]
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG. J Neurol Neurosurg Psychiatry. 1999 Aug; 67(2):174-9.

[J Neurol Neurosurg Psychiatry. 1999]
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