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A recurrent homozygous ACTN2 variant associated with core myopathy.
Inoue, Michio; Noguchi, Satoru; Sonehara, Kyuto; Nakamura-Shindo, Keiko; Taniguchi, Akira; Kajikawa, Hiroyuki; Nakamura, Hisayoshi; Ishikawa, Keiko; Ogawa, Megumu; Hayashi, Shinichiro; Okada, Yukinori; Kuru, Satoshi; Iida, Aritoshi; Nishino, Ichizo.
Affiliation
  • Inoue M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
  • Noguchi S; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
  • Sonehara K; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan. noguchi@ncnp.go.jp.
  • Nakamura-Shindo K; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan. noguchi@ncnp.go.jp.
  • Taniguchi A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan. noguchi@ncnp.go.jp.
  • Kajikawa H; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, 565-0871, Japan.
  • Nakamura H; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita, 565-0871, Japan.
  • Ishikawa K; Department of Neurology, Toyama Prefectural Central Hospital, Toyama, 930-8550, Japan.
  • Ogawa M; Department of Neurology, Mie University Graduate School of Medicine, Mie, 514-8507, Japan.
  • Hayashi S; Department of Neurology, Suzuka Kaisei Hospital, Mie, 513-8505, Japan.
  • Okada Y; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
  • Kuru S; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
  • Iida A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
Acta Neuropathol ; 142(4): 785-788, 2021 10.
Article in En | MEDLINE | ID: mdl-34471957
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Actinin / Muscular Diseases Type of study: Risk_factors_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Acta Neuropathol Year: 2021 Document type: Article Affiliation country: Japón
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Actinin / Muscular Diseases Type of study: Risk_factors_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Acta Neuropathol Year: 2021 Document type: Article Affiliation country: Japón