Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
- 14 March 2006
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 66 (5) , 752-754
- https://doi.org/10.1212/01.wnl.0000201275.18875.ac
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.Keywords
This publication has 6 references indexed in Scilit:
- Axonal Charcot–Marie–Tooth diseaseNeurology, 2005
- Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutationsBrain, 2005
- Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type VAmerican Journal of Human Genetics, 2003
- Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15Journal of the Neurological Sciences, 1998
- Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)Human Molecular Genetics, 1996
- Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7pHuman Molecular Genetics, 1995