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.
Original language | English |
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Pages (from-to) | 752-754 |
Number of pages | 3 |
Journal | Neurology |
Volume | 66 |
Issue number | 5 |
DOIs | |
Publication status | Published - Mar 2006 |
ASJC Scopus subject areas
- Neuroscience(all)