Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

Author:

Chaouch Amina1,Porcelli Vito2,Cox Daniel1,Edvardson Shimon3,Scarcia Pasquale2,De Grassi Anna2,Pierri Ciro L.2,Cossins Judith4,Laval Steven H.1,Griffin Helen1,Müller Juliane S.1,Evangelista Teresinha1,Töpf Ana1,Abicht Angela56,Huebner Angela7,von der Hagen Maja7,Bushby Kate1,Straub Volker1,Horvath Rita1,Elpeleg Orly3,Palace Jacqueline8,Senderek Jan6,Beeson David4,Palmieri Luigi29,Lochmüller Hanns1

Affiliation:

1. Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK

2. Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, Bari, Italy

3. Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel

4. Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Headley Way, Oxford, UK

5. Medizinisch Genetisches Zentrum, Munich, Germany

6. Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany

7. Children's Hospital, Technical University Dresden, Dresden, Germany

8. Department of Clinical Neurology. The John Radcliffe, Oxford, UK

9. CNR Institute of Biomembranes and Bioenergetics, Bari, Italy

Publisher

IOS Press

Subject

Clinical Neurology,Neurology

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