Dominant collagen XII mutations cause a distal myopathy-Reference-Cited by-同舟云学术

Dominant collagen XII mutations cause a distal myopathy

Published:2019-09-11 Issue:10 Volume:6 Page:1980-1988
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Mohassel Payam¹^ORCID,Liewluck Teerin²,Hu Ying¹,Ezzo Daniel¹,Ogata Tracy¹,Saade Dimah¹,Neuhaus Sarah¹,Bolduc Véronique¹,Zou Yaqun¹,Donkervoort Sandra¹,Medne Livija³,Sumner Charlotte J.⁴,Dyck P. James B.²,Wierenga Klaas J.⁵,Tennekoon Gihan⁶,Finkel Richard S.⁷,Chen Jiani⁸,Winder Thomas L.⁹,Staff Nathan P.²,Foley A. Reghan¹,Koch Manuel¹⁰,Bönnemann Carsten G.¹

Affiliation:

1. National Institutes of Health, NINDS, NNDCS Bethesda Maryland

2. Department of Neurology Mayo Clinic Rochester Minnesota

3. Roberts Individualized Medical Genetics Center, Division of Human Genetics Children’s Hospital of Philadelphia Philadelphia Pennsylvania

4. Departments of Neurology and Neuroscience Johns Hopkins University School of Medicine Baltimore Maryland

5. Department of Clinical Genomics Mayo Clinic Jacksonville Florida

6. Division of Neurology Children's Hospital of Philadelphia Philadelphia Pennsylvania

7. Department of Pediatrics Nemours Children’ Health System Orlando Florida

8. Division of Genomic Diagnostics Children’s Hospital of Philadelphia Philadelphia Pennsylvania

9. Invitae Corporation San Francisco California

10. Institute for Dental Research and Oral Musculoskeletal Biology, Center for Biochemistry, Medical Faculty University of Cologne Cologne Germany

Funder

Deutsche Forschungsgemeinschaft

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50882

Reference20 articles.

1. Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils

2. Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

3. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

4. Neuromuscular involvement in various types of Ehlers-Danlos syndrome

5. NovelCol12A1variant expands the clinical picture of congenital myopathies with extracellular matrix defects

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