A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy-Reference-Cited by-同舟云学术

A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

Published:2010-09-22 Issue:50 Volume:2 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Krahn Martin¹²,Wein Nicolas¹,Bartoli Marc¹³,Lostal William³,Courrier Sébastien¹,Bourg-Alibert Nathalie³,Nguyen Karine¹²,Vial Christophe⁴,Streichenberger Nathalie⁵,Labelle Véronique²,DePetris Danielle¹,Pécheux Christophe²,Leturcq France⁶,Cau Pierre¹,Richard Isabelle³,Lévy Nicolas¹²

Affiliation:

1. Inserm UMR_S 910, “Génétique Médicale et Génomique Fonctionnelle,” Faculté de Médecine de Marseille, Université de la Méditerranée, 13005 Marseille, France.

2. Département de Génétique Médicale, Hôpital d’Enfants de la Timone, AP-HM, 13005 Marseille, France.

3. Généthon, CNRS UMR8587 LAMBE, 91001 Evry, France.

4. Hôpital neurologique Pierre Wertheimer, 69500 Lyon, France.

5. Service de neuropathologie, hôpital neurologique, CHU de Lyon, 69500 Lyon, France.

6. Laboratoire de Biochimie Génétique, Hôpital Cochin, AP-HP, 75014 Paris, France.

Abstract

A naturally occurring miniversion of the dysferlin protein found in a patient shows that gene therapy by minigene transfer may be possible in dysferlinopathies.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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5. Phenotypic Study in 40 Patients With Dysferlin Gene Mutations

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