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Ann Neurol. 2005 Feb;57(2):293-7.

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

Author information

1
Department of Medical Genetics, St. George's Hospital Medical School, London, United Kingdom.

Erratum in

  • Ann Neurol. 2005 Apr;57(4):609. Irtthum, Alexandre [corrected to Irrthum, Alexandre].

Abstract

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.

PMID:
15668982
DOI:
10.1002/ana.20375
[Indexed for MEDLINE]

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