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

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

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 journal › Article › peer-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 language	English
Pages (from-to)	752-754
Number of pages	3
Journal	Neurology
Volume	66
Issue number	5
DOIs	https://doi.org/10.1212/01.wnl.0000201275.18875.ac
Publication status	Published - Mar 2006

ASJC Scopus subject areas

Neuroscience(all)

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

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.",

author = "{Del Bo}, R. and F. Locatelli and S. Corti and M. Scarlato and S. Ghezzi and A. Prelle and G. Fagiolari and M. Moggio and M. Carpo and N. Bresolin and Comi, {G. P.}",

year = "2006",

month = mar,

doi = "10.1212/01.wnl.0000201275.18875.ac",

language = "English",

volume = "66",

pages = "752--754",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

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TY - JOUR

T1 - Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

AU - Del Bo, R.

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.

PY - 2006/3

Y1 - 2006/3

N2 - 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.

AB - 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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AN - SCOPUS:33645884424

VL - 66

SP - 752

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JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 5

ER -

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

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