Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.

Santoro, Massimo; Perna, Alessia; La Rosa, Piergiorgio; Petrillo, Sara; Piemonte, Fiorella; Rossi, Salvatore; Riso, Vittorio; Nicoletti, Tommaso Filippo; Modoni, Anna; Pomponi, Maria Grazia; Chiurazzi, Pietro; Silvestri, Gabriella

Santoro, Massimo; Perna, Alessia; La Rosa, Piergiorgio; Petrillo, Sara; Piemonte, Fiorella; Rossi, Salvatore; Riso, Vittorio; Nicoletti, Tommaso Filippo; Modoni, Anna; Pomponi, Maria Grazia; Chiurazzi, Pietro; Silvestri, Gabriella.

Afiliación

Santoro M; IRCCS Fondazione Don Carlo Gnocchi, Piazzale Morandi, 6, 20121, Milan, Italy.
Perna A; Dept of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Scaro Cuore, L.go F. Vito 1, 000168, Rome, Italy.
La Rosa P; Unit of Muscular and Neurodegenerative Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale San Paolo, 15, 00146, Rome, Italy.
Petrillo S; Unit of Muscular and Neurodegenerative Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale San Paolo, 15, 00146, Rome, Italy.
Piemonte F; Unit of Muscular and Neurodegenerative Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale San Paolo, 15, 00146, Rome, Italy.
Rossi S; Dept of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Scaro Cuore, L.go F. Vito 1, 000168, Rome, Italy.
Riso V; Dept of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Scaro Cuore, L.go F. Vito 1, 000168, Rome, Italy.
Nicoletti TF; Institute of Neurology, Neuroscience Area, Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.
Modoni A; Dept of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Scaro Cuore, L.go F. Vito 1, 000168, Rome, Italy.
Pomponi MG; Institute of Neurology, Neuroscience Area, Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.
Chiurazzi P; Institute of Neurology, Neuroscience Area, Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.
Silvestri G; Institute of Genomic Medicine, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.

Neurogenetics ; 21(4): 279-287, 2020 10.

Article en En | MEDLINE | ID: mdl-32638185

Asunto(s)

Metilación de ADN; Ataxia de Friedreich/genética; Heterocigoto; Proteínas de Unión a Hierro/genética; Repeticiones de Trinucleótidos; Adulto; Alelos; Epigénesis Genética; Salud de la Familia; Femenino; Fibroblastos/citología; Fibroblastos/metabolismo; Ataxia de Friedreich/complicaciones; Humanos; Leucocitos/citología; Masculino; Repeticiones de Microsatélite; Linaje; Fenotipo; Reacción en Cadena de la Polimerasa; Análisis de Secuencia de ADN; Frataxina

Palabras clave

FXN intronic array; FXN methylation; Frataxin; Friedreich's ataxia; Molecular testing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia de Friedreich / Repeticiones de Trinucleótidos / Metilación de ADN / Proteínas de Unión a Hierro / Heterocigoto Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Italia

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