Contributors
Valentina Sardone:
ORCID: http://orcid.org/0000-0003-2499-9560
Role: ConceptualizationRole: Data curationRole: Formal analysisRole: InvestigationRole:
MethodologyRole: Project administrationRole: ValidationRole: Writing – original draft
Matthew Ellis: Role: Data curationRole: Formal analysisRole: InvestigationRole: MethodologyRole:
SoftwareRole: ValidationRole: Writing – review & editing
Silvia Torelli: Role: ConceptualizationRole: Formal analysisRole: ValidationRole: Writing – original
draft
Lucy Feng: Role: InvestigationRole: MethodologyRole: Writing – review & editing
Darren Chambers: Role: InvestigationRole: MethodologyRole: Writing – review & editing
Deborah Eastwood: Role: MethodologyRole: Writing – review & editing
Caroline Sewry: Role: ConceptualizationRole: InvestigationRole: MethodologyRole: SupervisionRole:
Writing – review & editing
Rahul Phadke: Role: ConceptualizationRole: InvestigationRole: MethodologyRole: SupervisionRole:
Writing – review & editing
Jennifer E. Morgan: Role: ConceptualizationRole: Data curationRole: Formal analysisRole: Funding acquisitionRole:
InvestigationRole: MethodologyRole: SupervisionRole: ValidationRole: Writing – original
draft
Francesco Muntoni: Role: ConceptualizationRole: Data curationRole: Formal analysisRole: Funding acquisitionRole:
InvestigationRole: MethodologyRole: SupervisionRole: ValidationRole: Writing – original
draft
Atsushi Asakura: Role: Editor
Journal
Journal ID (nlm-ta): PLoS One
Journal ID (iso-abbrev): PLoS ONE
Journal ID (publisher-id): plos
Journal ID (pmc): plosone
Title:
PLoS ONE
Publisher:
Public Library of Science
(San Francisco, CA USA
)
ISSN
(Electronic):
1932-6203
Publication date
(Electronic):
26
March
2018
Publication date Collection: 2018
Volume: 13
Issue: 3
Electronic Location Identifier: e0194540
Affiliations
[1
]
Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience
Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
[2
]
Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, United
Kingdom
[3
]
Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology
and Neurosurgery, UCLH NHS Foundation Trust, London, United Kingdom
[4
]
Department of Orthopaedics, Great Ormond Street Hospital, London, United Kingdom
[5
]
The Royal National Orthopaedic Hospital, Stanmore, United Kingdom
[6
]
Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry,
United Kingdom
[7
]
NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom
University of Minnesota Medical Center, UNITED STATES
Author notes
Competing Interests: VS was partially sponsored by Sarepta Therapeutics. FM has served on scientific advisory
boards for Roche; Summit Therapeutics; Italfarmaco; Pfizer and Sarepta Therapeutics.
He serves on the editorial board of Neuromuscular Disorders and Neuropediatrics. His
institution (UCL) receives research support from the European Union, the Medical Research
Council, the Wellcome Trust, the Association Francaise Contre les Myopathies (AFM),
the Muscular Dystrophy Campaign, the Great Ormond Street Hospital (GOSH) Biomedical
Research Centre, Genethon and National Institutes of Health (NIH). His institutions
(UCL and GOSH) receive funding for clinical trials from Prosensa/Biomarin, the British
Heat Foundation, Summit Therapeutics, Roche, ISIS, Pfizer, Sarepta and the European
Community. CAS serves on the advisor board of Audentes. She serves on the editorial
board of Neuromuscular Disorders and Neuropathology Applied Neurobiology. This does
not alter the authors’ adherence to PLOS ONE policies on sharing data and materials.
Author information
Article
Publisher ID:
PONE-D-17-28868
DOI: 10.1371/journal.pone.0194540
PMC ID: 5868811
PubMed ID: 29579078
SO-VID: 5f3c2d5d-3527-4fff-ab6a-04044c575a20
Copyright © © 2018 Sardone et al
License:
This is an open access article distributed under the terms of the
Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided
the original author and source are credited.
History
Date
received
: 3
August
2017
Date
accepted
: 5
March
2018
Page count
Figures: 9,
Tables: 4,
Pages: 21
Funding
Funded by: funder-id http://dx.doi.org/10.13039/100011199, FP7 Ideas: European Research Council;
Award ID: HEALTH-F4-2012-30537
Award Recipient
:
Francesco Muntoni
Funded by: SAREPTA THERAPEUTICS
Award Recipient
:
Francesco Muntoni
This work was funded by a European Union Framework Project 7 grant SKIP-NMD (No. HEALTH-F4-2012-30537)
and by Sarepta Therapeutics (both awarded to FM). VS was supported by the EU grant
SKIP-NMD (No. HEALTH-F4-2012-30537) and by Sarepta Therapeutics. FM is supported by
the National Institute for Health Research Biomedical Research Centre at Great Ormond
Street Hospital for Children NHS Foundation Trust and University College London. JEM
is supported by Great Ormond Street Hospital Children’s Charity. We gratefully acknowledge
the support of the National Institute for Health Research Biomedical Research Centre
at Great Ormond Street Hospital for Children NHS Foundation Trust and University College
London and for their support of the Centre for Neuromuscular Disease Bank. The funders
had no role in study design, data collection and analysis, decision to publish, or
preparation of the manuscript. This research was supported by the NIHR Great Ormond
Street Hospital Biomedical Research Centre. The views expressed are those of the author(s)
and not necessarily those of the NHS, the NIHR or the Department of Health.
Categories
Subject:
Research Article
Subject:
Biology and Life Sciences
Subject:
Biochemistry
Subject:
Proteins
Subject:
Cytoskeletal Proteins
Subject:
Dystrophin
Subject:
Medicine and Health Sciences
Subject:
Neurology
Subject:
Muscular Dystrophies
Subject:
Duchenne Muscular Dystrophy
Subject:
Medicine and Health Sciences
Subject:
Clinical Genetics
Subject:
X-Linked Traits
Subject:
Duchenne Muscular Dystrophy
Subject:
Biology and Life Sciences
Subject:
Genetics
Subject:
Heredity
Subject:
Genetic Linkage
Subject:
Sex Linkage
Subject:
X-Linked Traits
Subject:
Duchenne Muscular Dystrophy
Subject:
Biology and Life Sciences
Subject:
Biochemistry
Subject:
Proteins
Subject:
Cytoskeletal Proteins
Subject:
Spectrins
Subject:
Medicine and Health Sciences
Subject:
Surgical and Invasive Medical Procedures
Subject:
Biopsy
Subject:
Biology and Life Sciences
Subject:
Cell Biology
Subject:
Cellular Types
Subject:
Animal Cells
Subject:
Muscle Cells
Subject:
Sarcolemmas
Subject:
Biology and Life Sciences
Subject:
Anatomy
Subject:
Biological Tissue
Subject:
Muscle Tissue
Subject:
Muscle Cells
Subject:
Sarcolemmas
Subject:
Medicine and Health Sciences
Subject:
Anatomy
Subject:
Biological Tissue
Subject:
Muscle Tissue
Subject:
Muscle Cells
Subject:
Sarcolemmas
Subject:
Medicine and Health Sciences
Subject:
Pediatrics
Subject:
Biology and Life Sciences
Subject:
Biochemistry
Subject:
Proteins
Subject:
Muscle Proteins
Subject:
Biology and Life Sciences
Subject:
Cell Biology
Subject:
Cellular Types
Subject:
Animal Cells
Subject:
Muscle Fibers
Subject:
Biology and Life Sciences
Subject:
Anatomy
Subject:
Musculoskeletal System
Subject:
Muscles
Subject:
Muscle Fibers
Subject:
Medicine and Health Sciences
Subject:
Anatomy
Subject:
Musculoskeletal System
Subject:
Muscles
Subject:
Muscle Fibers
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