Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients-Reference-Cited by-同舟云学术

Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients

Published:2021-11-12 Issue: Volume: Page:
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle & Nerve

Author:

Mori‐Yoshimura Madoka¹,Kimura Ayano²,Tsuru Ayumi²,Yajima Hiroyuki³,Segawa Kazuhiko⁴,Mizuno Katsuhiro³,Oya Yasushi¹,Noguchi Satoru⁵,Nishino Ichizo⁵^ORCID,Takahashi Yuji¹

Affiliation:

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

2. Department of Laboratory Medicine National Center Hospital, National Center of Neurology and Psychiatry Tokyo Japan

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

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

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

Funder

National Center of Neurology and Psychiatry

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27451

Reference38 articles.

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2. “Rimmed vacuole myopathy” sparing the quadriceps. A unique disorder in Iranian Jews;Argov Z;J Neurol Sci.,1984

3. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy;Nishino I;Neurology.,2002

4. The UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg I;Nat Genet,2001

5. Nonaka myopathy is caused by mutations in the UDP‐N‐acetylglucosamine‐2‐epimerase/N‐acetylmannosamine kinase gene (GNE);Kayashima T;J Hum Genet.,2002

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