Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
Articolo
Data di Pubblicazione:
2006
Citazione:
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation / R. Del Bo , F. Locatelli , S.P. Corti , M. Scarlato , S. Ghezzi , A. Prelle , G. Fagiolari, M. Moggio , M. Carpo , N. Bresolin , G.P. Comi. - In: NEUROLOGY. - ISSN 0028-3878. - 66:5(2006), pp. 752-754.
Abstract:
An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
spinal muscular-atrophy ; Marie-Tooth-Disease ; RNA Synthetase Mutations ; Chromosome 7P ; CMT2D ; 2D
Elenco autori:
R. Del Bo , F. Locatelli , S.P. Corti , M. Scarlato , S. Ghezzi , A. Prelle , G. Fagiolari, M. Moggio , M. Carpo , N. Bresolin , G.P. Comi
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