Ontology highlight
ABSTRACT:
SUBMITTER: Deng HX
PROVIDER: S-EPMC3786192 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Deng Han-Xiang HX Klein Christopher J CJ Yan Jianhua J Shi Yong Y Wu Yanhong Y Fecto Faisal F Yau Hau-Jie HJ Yang Yi Y Zhai Hong H Siddique Nailah N Hedley-Whyte E Tessa ET Delong Robert R Martina Marco M Dyck Peter J PJ Siddique Teepu T
Nature genetics 20091227 2
Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous disorders involving topographically distinct nerves and muscles. We originally described a large New England family of French-Canadian origin with SPSMA and an American family of English and Scottish descent with CMT2C. We mapped SPSMA and CMT2C risk loci to 12q24.1-q24.31 with an over ...[more]