Distal Hereditary Motor Neuropathy Type II (Distal HMN II): Mapping of a Locus to Chromosome 12q24

The distal hereditary motor neuropathy (distal HMN) or the spinal form of Charcot-Marie-Tooth (CMT) disease is an exclusively motor disorder of the peripheral nervous system. The disorder clinically resembles the hereditary motor and sensory neuropathies (HMSN) type I and type II or CMT type 1 and t...

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Bibliographic Details
Published in:Human molecular genetics 1996-07, Vol.5 (7), p.1065-1069
Main Authors: Timmerman, Vincent, De Jonghe, Peter, Simokovic, Sandra, Löfgren, Ann, Beuten, Joke, Nelis, Eva, Ceuterick, Chantal, Martin, Jean-Jacques, Van Broeckhoven, Christine
Format: Article
Language:English
Subjects:
Adolescent
Adult
Belgium
Biological and medical sciences
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - physiopathology
Chromosome Mapping
Chromosomes, Human, Pair 12 - genetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Genes, Dominant - genetics
Haplotypes
Humans
Lod Score
Male
Medical sciences
Neurology
Pedigree
Phospholipases A - genetics
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Summary:The distal hereditary motor neuropathy (distal HMN) or the spinal form of Charcot-Marie-Tooth (CMT) disease is an exclusively motor disorder of the peripheral nervous system. The disorder clinically resembles the hereditary motor and sensory neuropathies (HMSN) type I and type II or CMT type 1 and type 2. Distal HMN might also be related to the spinal muscular atrophies (SMA) since, in both disorders, the lower motor neurons are affected. Electrophysiological and neuropathological examinations of peripheral nerves show the absence of sensory involvement. We performed a genome search in an extended Belgian family with autosomal dominant distal HMN type II. Significant linkage was obtained with markers located at chromosome 12q24, and the gene for distal HMN II was assigned to the 13 cM interval between D12S86 and D12S340.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/5.7.1065