Neurology. 1992 Mar;42(3 Pt 1):597-601.

Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.

Loprest LJ, Pericak-Vance MA, Stajich J, Gaskell PC, Lucas AM, Lennon F, Yamaoka LH, Roses AD, Vance JM.

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Department of Medicine, Duke University Medical Center, Durham, NC.

Abstract

Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is a progressive sensorimotor neuropathy divided into types 1 and 2 based upon electrophysiologic and neuropathologic differences. The more common autosomal dominant form of CMT type 1 (hereditary motor and sensory neuropathy type I) is genetically heterogeneous, with genes located on chromosomes 1 (type 1B) or 17 (type 1A). However, no locus for CMT type 2 is known. We have performed linkage studies on three large multigenerational CMT type 2 families using probes from chromosome 1 and chromosome 17, which span their respective linkage regions. Multipoint analysis of the chromosome 17 markers excluded linkage over an area of 45 cM--15 cM proximal and 30 cM distal to the region containing CMT type 1A. Multipoint analysis of the chromosome 1 markers exclude linkage 15 cM proximal and 20 cM distal to FC-gamma-RII in the region of CMT 1B. These data indicate that CMT type 2 is genetically distinct from CMT type 1.

PMID:: 1549221; [PubMed - indexed for MEDLINE]

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Cited by 2 PubMed Central articles

Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. [Am J Hum Genet. 1996]
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Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. [Am J Hum Genet. 1995]
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
Kwon JM, Elliott JL, Yee WC, Ivanovich J, Scavarda NJ, Moolsintong PJ, Goodfellow PJ. Am J Hum Genet. 1995 Oct; 57(4):853-8.

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