Distal Myopathy in Multi-minicore Disease
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概要
- 論文の詳細を見る
A 52-year-old man noted distal dominant slowly progressive muscle weakness at age 36 years. On muscle CT, the red muscles of the soleus, anterior tibial and paraspinal muscles, where type 1 fiber is known to predominate, were almost totally replaced by fat tissue while quadriceps femoris, gastrocnemius and upper extremity muscles were relatively spared. Quadriceps muscle biopsy revealed multi-minicores in addition to occasional larger cores, in about 70% of the type 1 fibers. A novel heterozygous nucleotide change c.5869T > A (p.S1957T) was identified in RYR1. Although pathogenicity was not confirmed, this nucleotide change was absent in 100 control DNA. We did not find a mutation in either multi-minicore disease-associated gene, SEPN1, or major distal myopathy-related genes, including GNE, ZASP, MYOT, exons 32-36 of MYH7, and the last exon of TTN. This is probably a unique form of distal myopathy characterized by the presence of multi-minicores with preferential involvement of type 1 fibers.
- 社団法人 日本内科学会の論文
著者
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Nonaka Ikuya
National Center For Nervous. Mental And Musculor Disorders
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Nishino Ichizo
National Center Of Neurology And Psychiatry
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HAYASHI Yukiko
National Institute of Neuroscience
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Moreno Carlos
National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry
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Nonaka Ikuya
National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry
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Mitsuhashi Satomi
National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry
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Wu Shiwen
National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry
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Shalaby Sherine
National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry
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Noguchi Satoru
National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry
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