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

R. Del Bo, F. Locatelli, S. Corti, M. Scarlato, S. Ghezzi, A. Prelle, G. Fagiolari, M. Moggio, M. Carpo, N. Bresolin, G. P. Comi

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)752-754
Number of pages3
JournalNeurology
Volume66
Issue number5
DOIs
Publication statusPublished - Mar 2006

ASJC Scopus subject areas

  • Neuroscience(all)

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