Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia-Reference-Cited by-同舟云学术

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Published:2017-06-06 Issue:8 Volume:38 Page:970-977
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nasca Alessia¹,Scotton Chiara²,Zaharieva Irina³,Neri Marcella²,Selvatici Rita²,Magnusson Olafur Thor⁴,Gal Aniko⁵⁶,Weaver David⁵,Rossi Rachele²,Armaroli Annarita²,Pane Marika⁷,Phadke Rahul³,Sarkozy Anna³,Muntoni Francesco³,Hughes Imelda⁸,Cecconi Antonella⁹,Hajnóczky György⁵,Donati Alice¹⁰,Mercuri Eugenio⁷,Zeviani Massimo¹¹,Ferlini Alessandra²³,Ghezzi Daniele¹^ORCID

Affiliation:

1. Molecular Neurogenetics UnitFoundation IRCCS Neurological Institute Besta Milan Italy

2. Medical Genetics UnitDepartment of Medical SciencesUniversity of Ferrara Ferrara Italy

3. Dubowitz Neuromuscular CentreUCL Great Ormond Street Hospital London UK

4. deCODE Genetics Reykjavik Iceland

5. MitoCare Center for Mitochondrial Imaging Research and DiagnosticsDepartment of PathologyAnatomy and Cell BiologyThomas Jefferson University Philadelphia Pennsylvania

6. Institute of Genomic Medicine and Rare DisordersSemmelweis University Budapest Hungary

7. Neuropsichiatry UnitCatholic UniversityPoliclinico Gemelli Rome Italy

8. Royal Manchester Children's Hospital Manchester UK

9. Pediatrics Medical GeneticsHospital S. Maria Annunziata Bagno a Ripoli Florence Italy

10. Unit of Metabolic and Muscular DiseasesMeyer Children Hospital Florence Italy

11. Mitochondrial Biology Unit ‐ MRC Cambridge UK

Funder

Fondazione Pierfranco e Luisa Mariani

European Commission

European Research Council

Medical Research Council

Fondazione Telethon