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TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.
Astrea, Guja; Pezzini, Ilaria; Picillo, Ester; Pasquariello, Rosa; Moro, Francesca; Ergoli, Manuela; D'Ambrosio, Paola; D'Amico, Adele; Politano, Luisa; Santorelli, Filippo Maria.
Afiliación
  • Astrea G; IRCCS Stella Maris, Pisa, Italy.
  • Pezzini I; IRCCS Stella Maris, Pisa, Italy.
  • Picillo E; Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of Naples, Naples, Italy.
  • Pasquariello R; IRCCS Stella Maris, Pisa, Italy.
  • Moro F; IRCCS Stella Maris, Pisa, Italy.
  • Ergoli M; Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of Naples, Naples, Italy.
  • D'Ambrosio P; Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of Naples, Naples, Italy.
  • D'Amico A; Unit for Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
  • Politano L; Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of Naples, Naples, Italy.
  • Santorelli FM; IRCCS Stella Maris, Pisa, Italy. Electronic address: filippo3364@gmail.com.
Neuromuscul Disord ; 26(7): 459-61, 2016 07.
Article en En | MEDLINE | ID: mdl-27212206
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de la Membrana / Distrofias Musculares Tipo de estudio: Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de la Membrana / Distrofias Musculares Tipo de estudio: Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Italia