TRAPPC11 ‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain-Reference-Cited by-同舟云学术

TRAPPC11 ‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain

Published:2021-11-11 Issue:2 Volume:48 Page:
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathology Appl Neurobio

Author:

Munot Pinki¹,McCrea Nadine¹,Torelli Silvia²^ORCID,Manzur Adnan¹,Sewry Caroline³,Chambers Darren³,Feng Lucy³,Ala Pierpaolo²,Zaharieva Irina²,Ragge Nicola⁴,Roper Helen⁵,Marton Tamas⁶,Cox Phil⁶,Milev Miroslav P.⁷,Liang Wen‐Chen⁸,Maruyama Shinsuke⁹,Nishino Ichizo¹⁰,Sacher Michael⁷¹¹,Phadke Rahul³¹²^ORCID,Muntoni Francesco¹¹³

Affiliation:

1. Dubowitz Neuromuscular Centre Great Ormond Street Hospital for Children NHS Foundation Trust London UK

2. UCL, Dubowitz Neuromuscular Centre Great Ormond Street Institute of Child Health London UK

3. Dubowitz Neuromuscular Centre, Division of Neuropathology UCL Institute of Neurology London UK

4. Birmingham Women's and Children's NHS Foundation Hospital Trust, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham UK

5. Department of Paediatrics, Birmingham Heartlands Hospital University Hospitals Birmingham NHS Foundation Trust Birmingham UK

6. Department of Histopathology Birmingham Women's and Children's NHS Foundation Trust Birmingham UK

7. Department of Biology Concordia University Montreal Quebec Canada

8. Department of Pediatrics Kaohsiung Medical University Hospital Kaohsiung Taiwan

9. Department of Paediatrics Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan

10. Department of Neuromuscular Research, National Institute of Neuroscience National Centre of Neurology and Psychiatry Kodaira Japan

11. Department of Anatomy and Cell Biology McGill University Montreal Quebec Canada

12. Division of Neuropathology University College London Hospitals NHS Foundation Trust National Hospital for Neurology and Neurosurgery London UK

13. UCL Great Ormond Street Institute of Child Health NIHR Great Ormond Street Hospital Biomedical Research Centre London UK

Funder

Canadian Institutes of Health Research

Muscular Dystrophy UK

National Institute for Health Research

Natural Sciences and Engineering Research Council of Canada

Seventh Framework Programme

Department of Health, Australian Government

Wellcome Trust

Medical Research Council

NIHR Great Ormond Street Hospital Biomedical Research Centre

Publisher

Wiley

Subject

Physiology (medical),Neurology (clinical),Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12771

Reference44 articles.

1. Limb-girdle muscular dystrophies - from genetics to molecular pathology

2. Muscular dystrophies

3. Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

4. Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

5. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype

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