Distal Myopathy in Multi-minicore Disease
Author:
Affiliation:
1. National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
http://www.jstage.jst.go.jp/article/internalmedicine/48/19/48_19_1759/_pdf
Reference21 articles.
1. Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies
2. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
3. Multicore disease: Report of a case with onset in middle age
4. Multicore myopathy presenting in adulthood with respiratory failure
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1. A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores;CNS Neuroscience & Therapeutics;2021-06-25
2. Two Families With MYH7 Distal Myopathy Associated With Cardiomyopathy and Core Formations;Journal of Clinical Neuromuscular Disease;2015-03
3. Distal Myopathies;Neurologic Clinics;2014-08
4. Histopathologic findings in the sacrocaudalis dorsalis medialis muscle of horses with vitamin E–responsive muscle atrophy and weakness;Journal of the American Veterinary Medical Association;2013-04-15
5. Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement;Neuromuscular Disorders;2012-12
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