Toward an objective measure of functional disability in dysferlinopathy-Reference-Cited by-同舟云学术

Toward an objective measure of functional disability in dysferlinopathy

Published:2015-05-23 Issue:1 Volume:53 Page:49-57
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Woudt Lisanne¹,Di Capua Gabriella A.²,Krahn Martin³⁴,Castiglioni Claudia⁵,Hughes Ricardo¹,Campero Mario¹,Trangulao Alejandra⁶,González-Hormazábal Patricio²,Godoy-Herrera Raúl²,Lévy Nicolas³⁴,Urtizberea Jon Andoni⁷,Jara Lilian²,Bevilacqua Jorge A.¹⁶

Affiliation:

1. Unidad Neuromuscular; Departamento de Neurología y Neurocirugía; Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso; Sector E. Independencia 8380456 Santiago Chile

2. Programa de Genética Humana; Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile; Santiago Chile

3. Aix Marseille Université; INSERM, Medical Genetics and Functional Genomics; Unité Mixte de Recherche_S 910 Marseille France

4. Assistance Publique - Hôpitaux de Marseille; Département de Génétique Médicale; Hôpital Timone Enfants; Marseille France

5. Unidad de Neurología; Departamento de Pediatría; Clínica Las Condes; Santiago Chile

6. Programa Anatomía y Biología del Desarrollo; Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile; Santiago Chile

7. Unité Neuromusculaire, Hôpital Marin de Hendaye; Assistance Publique - Hôpitaux de Paris Hendaye France

Funder

Comisión Nacional de Investigación Científica y Tecnológica

Universidad de Chile

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.24685/fullpdf

Reference38 articles.

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3. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy;Aoki;Neurology,2001

4. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype;Illa;Ann Neurol,2001

5. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes;Nguyen;Arch Neurol,2007

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