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 journalArticle

50 Citations (Scopus)

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

Fingerprint

Age of Onset
Tooth
Phenotype
Mutation
Genes
Neuronopathy, Distal Hereditary Motor, Type V

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. / Del Bo, R.; Locatelli, F.; Corti, S.; Scarlato, M.; Ghezzi, S.; Prelle, A.; Fagiolari, G.; Moggio, M.; Carpo, M.; Bresolin, N.; Comi, G. P.

In: Neurology, Vol. 66, No. 5, 03.2006, p. 752-754.

Research output: Contribution to journalArticle

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AU - Locatelli, F.

AU - Corti, S.

AU - Scarlato, M.

AU - Ghezzi, S.

AU - Prelle, A.

AU - Fagiolari, G.

AU - Moggio, M.

AU - Carpo, M.

AU - Bresolin, N.

AU - Comi, G. P.

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