Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

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 heter...

Full description

Saved in:
Bibliographic Details
Published inNeurology Vol. 66; no. 5; p. 752
Main Authors Del Bo, R, Locatelli, F, Corti, S, Scarlato, M, Ghezzi, S, Prelle, A, Fagiolari, G, Moggio, M, Carpo, M, Bresolin, N, Comi, G P
Format Journal Article
LanguageEnglish
Published United States 14.03.2006
Subjects
Adolescent
Charcot-Marie-Tooth Disease - genetics
Female
Glycine-tRNA Ligase - genetics
Humans
Italy
Male
Middle Aged
Mutation
Pedigree
Italy
Online AccessGet more information

Cover

More Information
Summary: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.
ISSN:1526-632X
DOI:10.1212/01.wnl.0000201275.18875.ac