Case Reports
doi: 10.1212/01.wnl.0000201275.18875.ac.
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
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- PMID: 16534118
- DOI: 10.1212/01.wnl.0000201275.18875.ac
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Case Reports
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
Neurology.
.
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.
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