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Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.
Berti, Beatrice; Longo, Giovanna; Mari, Francesco; Doccini, Stefano; Piccolo, Ilaria; Donati, Maria Alice; Moro, Francesca; Guerrini, Renzo; Santorelli, Filippo M; Petruzzella, Vittoria.
Afiliación
  • Berti B; Pediatric Neurology and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.
  • Longo G; Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari Aldo Moro, Piazza G. Cesare, 11, 70124, Bari, Italy.
  • Mari F; Child Neurology Unit, Meyer Children's Hospital, Florence, Italy.
  • Doccini S; IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy.
  • Piccolo I; Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari Aldo Moro, Piazza G. Cesare, 11, 70124, Bari, Italy.
  • Donati MA; Metabolic Unit, Meyer Children's Hospital, Florence, Italy.
  • Moro F; IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy.
  • Guerrini R; Child Neurology Unit, Meyer Children's Hospital, Florence, Italy.
  • Santorelli FM; IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy. filippo3364@gmail.com.
  • Petruzzella V; Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari Aldo Moro, Piazza G. Cesare, 11, 70124, Bari, Italy. vittoria.petruzzella@uniba.it.
BMC Med Genomics ; 14(1): 157, 2021 06 12.
Article en En | MEDLINE | ID: mdl-34118926
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Italia