Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24

Hereditary motor and sensory neuropathy type IIC (HMSN IIC) is an autosomal dominant axonal neuropathy. The cardinal features include distal muscle wasting and weakness, vocal cord paralysis, and mild sensory impairment. Recently, HMSN IIC locus was mapped to chromosome 12q23‐24. Two families affect...

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Bibliographic Details
Published in:Annals of neurology 2005-02, Vol.57 (2), p.293-297
Main Authors: McEntagart, Meriel E., Reid, Sarah L., Irtthum, Alexandre, Douglas, Jenny B., Eyre, Keith E. D., Donaghy, Michael J., Anderson, Neil E., Rahman, Nazneen
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Biological and medical sciences
Charcot-Marie-Tooth Disease - genetics
Child
Chromosomes, Human, Pair 12 - genetics
Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction
Diseases of visual field, optic nerve, optic chiasma and optic tracts
DNA Mutational Analysis
Female
Genetic Linkage
Humans
Infant, Newborn
Lod Score
Male
Medical sciences
Microsatellite Repeats
Middle Aged
Nervous system (semeiology, syndromes)
Neural Conduction
Neurology
Ophthalmology
Pedigree
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Summary:Hereditary motor and sensory neuropathy type IIC (HMSN IIC) is an autosomal dominant axonal neuropathy. The cardinal features include distal muscle wasting and weakness, vocal cord paralysis, and mild sensory impairment. Recently, HMSN IIC locus was mapped to chromosome 12q23‐24. Two families affected by HMSN IIC were identified and evaluated for linkage to this region. Segregation analysis in both families was consistent with linkage to chromosome 12q23‐24. Combined analysis generated a multipoint LOD score of 2.1 at marker D12S1583 and refined the HMSN IIC gene interval to The clinical and molecular findings are discussed.Ann Neurol 2005;57:293–297
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.20375