Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.

Lorenz, Robin; Ahting, Uwe; Betzler, Cornelia; Heimering, Sigrid; Borggräfe, Ingo; Lange-Sperandio, Bärbel

Lorenz, Robin; Ahting, Uwe; Betzler, Cornelia; Heimering, Sigrid; Borggräfe, Ingo; Lange-Sperandio, Bärbel.

Afiliação

Lorenz R; Division of Pediatric Nephrology, Ludwig-Maximilians University, Dr. v. Hauner Children's Hospital, Munich, Germany.
Ahting U; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Betzler C; Specialist Center for Pediatric Neurology, Neuro-Rehabilitation and Epileptology, Schoen Klinik Vogtareuth SE & Co. KG, Vogtareuth, Germany.
Heimering S; Children's Hospital St. Marien, Amberg, Germany.
Borggräfe I; Division of Pediatric Neurology, Developmental Medicin and Social Pediatrics, and Epilepsy Center, Ludwig-Maximilians University, Dr. v. Hauner Children's Hospital, Munich, Germany.
Lange-Sperandio B; Division of Pediatric Nephrology, Ludwig-Maximilians University, Dr. v. Hauner Children's Hospital, Munich, Germany, baerbel.lange-sperandio@med.uni-muenchen.de.

Nephron ; 144(3): 156-160, 2020.

Article em En | MEDLINE | ID: mdl-31722346

Assuntos

Encefalopatias/etiologia; DNA Mitocondrial/genética; Heteroplasmia; Falência Renal Crônica/etiologia; Túbulos Renais/patologia; Mutação; Pré-Escolar; Feminino; Humanos

Palavras-chave

Mitochondrial tubulointerstitial kidney disease; Autosomal-dominant tubulointerstitial kidney disease ; Encephalopathia; Epilepsia; Mitochondrial DNA

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / DNA Mitocondrial / Heteroplasmia / Falência Renal Crônica / Túbulos Renais / Mutação Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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