Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients (2017)
- Authors:
- USP affiliated authors: REED, UMBERTINA CONTI - FM ; ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1016/j.nmd.2017.05.016
- Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS; HIPERTERMIA MALIGNA; MUTAÇÃO GENÉTICA
- Agências de fomento:
- CAPES Foundation, Ministry of Education of Brazil [1286/51-2]
- Myotubular Trust and Sparks the Children's medical research charity
- Muscular Dystrophy Association [MDA-186985]
- Association Francaise contre les Myopathies [AFM-17088]
- Fondation Maladies Rares
- France Genomique National infrastructure as part of the Investissements d'Avenir program [ANR-10-INBS-09]
- Institut National de la Santé et de la Recherche Médicale (INSERM)
- Language: Inglês
- Imprenta:
- Source:
- Título: Neuromuscular disorders
- ISSN: 0960-8966
- Volume/Número/Paginação/Ano: v. 27, n. 11, p. 975-985, 2017
- Status:
- Artigo possui versão em acesso aberto em repositório (Green Open Access)
- Versão do Documento:
- Versão submetida (Pré-print)
- Acessar versão aberta:
-
ABNT
NETO, Osorio Abath e REED, Umbertina Conti e ZANOTELI, Edmar. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscular disorders, v. 27, n. 11, p. 975-985, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2017.05.016. Acesso em: 14 abr. 2026. -
APA
Neto, O. A., Reed, U. C., & Zanoteli, E. (2017). Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscular disorders, 27( 11), 975-985. doi:10.1016/j.nmd.2017.05.016 -
NLM
Neto OA, Reed UC, Zanoteli E. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients [Internet]. Neuromuscular disorders. 2017 ; 27( 11): 975-985.[citado 2026 abr. 14 ] Available from: https://doi.org/10.1016/j.nmd.2017.05.016 -
Vancouver
Neto OA, Reed UC, Zanoteli E. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients [Internet]. Neuromuscular disorders. 2017 ; 27( 11): 975-985.[citado 2026 abr. 14 ] Available from: https://doi.org/10.1016/j.nmd.2017.05.016 - The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
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