Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.
case_report · Level V
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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.
Medical subject headings
- Charcot-Marie-Tooth Disease
- Glycine-tRNA Ligase
- Mutation