Open AccessHereditary Motor and Sensory Neuropathy Type 2C Is Genetically Distinct From Types 2B and 2D
Author(s) -
Masaaki Nagamatsu,
Robert B. Jenkins,
Daniel J. Schaid,
D. Klein,
Peter James Dyck
Publication year - 2000
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.57.5.669
Subject(s) - hereditary motor and sensory neuropathy , locus (genetics) , genetics , allele , phenotype , genetic linkage , genetic heterogeneity , disease , biology , gene , medicine , pathology
Linkage analysis studies have identified 3 genetically different varieties of hereditary motor and sensory neuropathy type 2 (HMSN 2, also called Charcot-Marie-Tooth disease type 2, or CMT 2): HMSN 2A (linked to 1p35-p36), 2B (to 3q13-q22), and 2D (to 7p14). Hereditary motor and sensory neuropathy type 2C is characterized by diaphragmatic and vocal cord paresis; its disease locus has not been mapped.
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