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Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.
Cotta, Ana; Carvalho, Elmano; da-Cunha-Junior, Antonio Lopes; Navarro, Monica M; Menezes, Miriam M; Paim, Julia F; Valicek, Jaquelin; Lima, Maria Isabel; Velloso-Filho, Roberto; Freire-Lyra, Maria Henriqueta; Takata, Reinaldo I; Inoue, Michio; Okubo, Mariko; Iida, Aritoshi; Nishino, Ichizo.
Afiliación
  • Cotta A; Department of Pathology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: cotta@sarah.br.
  • Carvalho E; Department of Neurophysiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: 9230@sarah.br.
  • da-Cunha-Junior AL; Department of Radiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil.. Electronic address: 400564@sarah.br.
  • Navarro MM; Department of Pediatrics and Genetics, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: 400039@sarah.br.
  • Menezes MM; Department of Neurology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: 204794@sarah.br.
  • Paim JF; Department of Pathology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: julia@sarah.br.
  • Valicek J; Department of Neurophysiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil. Electronic address: 400585@sarah.br.
  • Lima MI; Department of Electron Microscopy, SARAH Network of Rehabilitation Hospitals, Brasilia, (DF), Brazil. Electronic address: 204384@sarah.br.
  • Velloso-Filho R; Department of Radiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil.. Electronic address: 13018@sarah.br.
  • Freire-Lyra MH; Department of Radiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil.. Electronic address: 400322@sarah.br.
  • Takata RI; Department of Molecular Biology, SARAH Network of Rehabilitation Hospitals, Brasilia, (DF), Brazil. Electronic address: 202911@sarah.br.
  • Inoue M; Department of Neuromuscular Research, National Institute of Neuroscience; and Department of Genome Medicine Development, Medical Genome Center; National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan. Electronic address: inouem@ncnp.go.jp.
  • Okubo M; Department of Neuromuscular Research, National Institute of Neuroscience; and Department of Genome Medicine Development, Medical Genome Center; National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan. Electronic address: ohkubom@ncnp.go.jp.
  • Iida A; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan. Electronic address: iidaa@ncnp.go.jp.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience; and Department of Genome Medicine Development, Medical Genome Center; National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Ce
J Neurol Sci ; 415: 116977, 2020 08 15.
Article en En | MEDLINE | ID: mdl-32535249
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ATPasas de Translocación de Protón Vacuolares / Enfermedades Musculares Límite: Humans País/Región como asunto: America do sul / Brasil Idioma: En Revista: J Neurol Sci Año: 2020 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ATPasas de Translocación de Protón Vacuolares / Enfermedades Musculares Límite: Humans País/Región como asunto: America do sul / Brasil Idioma: En Revista: J Neurol Sci Año: 2020 Tipo del documento: Article