A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study-Reference-Cited by-同舟云学术

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A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

Published:2017-12-22 Issue:4 Volume:57 Page:550-560
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Beggs Alan H.¹^ORCID,Byrne Barry J.²,De Chastonay Sabine³,Haselkorn Tmirah⁴,Hughes Imelda⁵,James Emma S.⁶,Kuntz Nancy L.⁷,Simon Jennifer⁸,Swanson Lindsay C.¹,Yang Michele L.⁹,Yu Zi‐Fan⁸,Yum Sabrina W.¹⁰,Prasad Suyash⁶

Affiliation:

1. Division of Genetics and Genomics, The Manton Center for Orphan Disease ResearchBoston Children's Hospital, Harvard Medical School300 Longwood Avenue Boston Massachusetts USA

2. Children's Research InstituteUniversity of FloridaGainesville, Gainesville Florida USA

3. Cure CMDTorrance California USA

4. EpiMetrix, Inc.Los Altos California USA

5. Royal Manchester Children's HospitalManchester United Kingdom

6. Audentes TherapeuticsSan Francisco California USA

7. Ann and Robert H. Lurie Children's Hospital of ChicagoChicago Illinois USA

8. Statistics CollaborativeWashington DC

9. Children's Hospital ColoradoAurora Colorado USA

10. Children's Hospital of Philadelphia, Perelman School of Medicine at the University of PennsylvaniaPhiladelphia Pennsylvania USA

Funder

National Institutes of Health

Muscular Dystrophy Association

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.26018

Reference39 articles.

1. A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

2. X-Linked Myotubular and Centronuclear Myopathies

3. Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

4. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

5. Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human

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