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01-11-2013 | Letter to the Editor

Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation

Authors: L. Di Vito, D. de Biase, A. Pession, M. Visani, R. Liguori, S. Zambito Marsala, V. Leta, P. De Carolis, V. Donadio

Published in: Neurogenetics | Issue 3-4/2013

Excerpt

Brachial amyotrophic diplegia (BAD) is a sporadic adult-onset lower motor neuron disease restricted to the proximal arm and shoulder girdle muscles [1]. BAD has been associated with several acquired disorders such as cerebral, brain stem, cervical spinal cord or bilateral brachial plexus insult. However, a correlation with a novel copper/zinc superoxide dismutase (SOD1) gene mutation has recently been reported [1, 2], pointing to a possible genetic predisposition at least in some cases. We report on a novel association of BAD syndrome with the A140A SOD1 mutation in two Italian siblings. …

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Title: Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation
Authors: L. Di Vito
D. de Biase
A. Pession
M. Visani
R. Liguori
S. Zambito Marsala
V. Leta
P. De Carolis
V. Donadio
Publication date: 01-11-2013
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 3-4/2013
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-013-0369-6

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Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation

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