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PMID: 16534118 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

Neurology ·Vol. 66 ·No. 5 ·2006-03-14 ·Pages 752-4

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

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.

MeSH Terms

Adolescent Charcot-Marie-Tooth Disease/genetics Female Glycine-tRNA Ligase/genetics Humans Italy Male Middle Aged Mutation Pedigree

Chemicals

Glycine-tRNA Ligase

Authors & Affiliations

11 authors, click to expand affiliations / ORCID

Del Bo R

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy. [email protected]

Locatelli F

Corti S

Scarlato M

Ghezzi S

Prelle A

Fagiolari G

Moggio M

Carpo M

Bresolin N

Comi G P

Article Info

Journal

Neurology

Abbr.

Neurology

ISSN

1526-632X

DOI

10.1212/01.wnl.0000201275.18875.ac

[email protected]

Published

2006-03-14

Pages

752-4

Language

English

Region

United States

NLM ID

0401060

Subset

Grants

Telethon · GTF02008 · Italy

External Links

PubMed source DOI: 10.1212/01.wnl.0000201275.18875.ac View journal details

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

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