Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement-Reference-Cited by-同舟云学术

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

Published:2017-03-30 Issue:2 Volume:57 Page:330-334
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Noury Jean-Baptiste¹,Maisonobe Thierry²,Richard Pascale³,Delague Valérie⁴,Malfatti Edoardo²,Stojkovic Tanya²

Affiliation:

1. Service de Neurologie, Hôpital de La Cavale Blanche; CHRU Brest; Boulevard Tanguy Prigent, 29609 Brest France

2. Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie; CHU La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris, Paris France

3. UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Equipe “Génomique et Physiopathologie des Maladies Cardiovasculaires”, Institute of Cardiometabolism and Nutrition; CHU La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris, Paris France

4. INSERM; UMR_S 910; 13385 Marseille France

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference15 articles.

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2. BAG3: a multifaceted protein that regulates major cell pathways;Rosati;Cell Death Dis,2011

3. Mutation in BAG3 causes severe dominant childhood muscular dystrophy;Selcen;Ann Neurol,2009

4. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation;Odgerel;Neuromuscul Disord,2010

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