Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Schon, Katherine; Spasic-Boskovic, Olivera; Brugger, Kim; Graves, Tracey D; Abbs, Stephen; Park, Soo-Mi; Ambegaonkar, Gautam; Armstrong, Ruth

Schon, Katherine; Spasic-Boskovic, Olivera; Brugger, Kim; Graves, Tracey D; Abbs, Stephen; Park, Soo-Mi; Ambegaonkar, Gautam; Armstrong, Ruth.

Afiliación

Schon K; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK. Katherine.schon@addenbrookes.nhs.uk.
Spasic-Boskovic O; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.
Brugger K; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.
Graves TD; Department of Neurology, Hinchingbrooke Hospital, Hinchingbrooke Park, Huntingdon, PE29 6NT, UK.
Abbs S; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.
Park SM; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.
Ambegaonkar G; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.
Armstrong R; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.

Neurogenetics ; 18(1): 49-55, 2017 01.

Article en En | MEDLINE | ID: mdl-28063088

Asunto(s)

Enfermedad de Charcot-Marie-Tooth/genética; Enfermedad de Charcot-Marie-Tooth/patología; GTP Fosfohidrolasas/genética; Proteínas Mitocondriales/genética; Mosaicismo; Mutación Missense; Adulto; Preescolar; Relaciones Padre-Hijo; Femenino; Humanos; Masculino; Núcleo Familiar; Padres; Linaje; Fenotipo; Índice de Severidad de la Enfermedad

Palabras clave

CMT2A; Charcot-Marie-tooth disease; MFN2; Mosaicism

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Mutación Missense / Proteínas Mitocondriales / GTP Fosfohidrolasas / Mosaicismo Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido

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