Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy-Reference-Cited by-同舟云学术

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

Published:2019-03-18 Issue:5 Volume:7 Page:e621
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Nishikawa Atsuko¹,Iida Aritoshi²^ORCID,Hayashi Shinichiro¹,Okubo Mariko¹,Oya Yasushi³,Yamanaka Gaku⁴,Takahashi Ikuko⁵,Nonaka Ikuya¹,Noguchi Satoru¹^ORCID,Nishino Ichizo¹²^ORCID

Affiliation:

1. Department of Neuromuscular Research National Institute of Neuroscience, National Center of Neurology and Psychiatry Tokyo Japan

2. Department of Clinical Genome Analysis Medical Genome Center, National Center of Neurology and Psychiatry Tokyo Japan

3. Department of Neurology National Center Hospital, National Center of Neurology and Psychiatry Tokyo Japan

4. Department of Pediatrics Tokyo Medical University Hospital Tokyo Japan

5. Department of Pediatrics Akita University Faculty of Medicine Akita Japan

Funder

Japan Agency for Medical Research and Development

Ministry of Education, Culture, Sports, Science and Technology

National Center of Neurology and Psychiatry

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.621

Reference19 articles.

1. A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels

2. Crystal Structure of a Phosphoinositide Phosphatase, MTMR2

3. Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity

4. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

5. Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

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