Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients-Reference-Cited by-同舟云学术

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients

Published:2017-04-10 Issue:6 Volume:56 Page:1096-1100
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Papadopoulos Constantinos¹,LaforÊt Pascal¹,Nectoux Juliette²,Stojkovic Tanya¹,Wahbi Karim³,Carlier Robert-Yves⁴,Carlier Pierre G⁵,Leonard-Louis Sarah¹,Leturcq France²,Romero Norma⁶,Eymard Bruno¹,Behin Anthony¹

Affiliation:

1. APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière; 47-83 Boulevard de l'Hôpital, 75013 Paris France

2. APHP, Service de Biochimie et Génétique Moléculaire, Cochin Hospital; Paris France

3. APHP, Pitié-Salpêtrière Hospital, Myology Institute; Paris France

4. Radiological Unit, Teaching Hospital R. Poincaré, University Hospital of Paris, Versailles St Quentin University; Garches France

5. CEA, I2BM, MIRCen, IdM NMR Laboratory; Paris France

6. Laboratoire de Pathologie Musculaire Risler, Institut de Myologie, GH Pitié-Salpêtrière; Paris France

Publisher

Wiley

Subject

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

Reference22 articles.

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2. Anoctamin/TMEM16 family members are Ca2+-activated Cl channels;Hartzell;J Physiol,2009

3. Defective membrane fusion and repair in anoctamin5-deficient muscular dystrophy;Griffin;Hum Mol Genet,2016

4. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD);Tsutsumi;Am J Hum Genet,2004

5. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010

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