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Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23‐q24
Author(s) -
McEntagart Meriel E.,
Reid Sarah L.,
Irtthum Alexandre,
Douglas Jenny B.,
Eyre Keith E. D.,
Donaghy Michael J.,
Anderson Neil E.,
Rahman Nazneen
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20375
Subject(s) - locus (genetics) , genetic linkage , genetics , hereditary motor and sensory neuropathy , sensory system , medicine , neuroscience , biology , gene
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