CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Saunders, Carol; Smith, Laurie; Wibrand, Flemming; Ravn, Kirstine; Bross, Peter; Thiffault, Isabelle; Christensen, Mette; Atherton, Andrea; Farrow, Emily; Miller, Neil; Kingsmore, Stephen F; Ostergaard, Elsebet

Saunders, Carol; Smith, Laurie; Wibrand, Flemming; Ravn, Kirstine; Bross, Peter; Thiffault, Isabelle; Christensen, Mette; Atherton, Andrea; Farrow, Emily; Miller, Neil; Kingsmore, Stephen F; Ostergaard, Elsebet.

Afiliação

Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA. Electronic address: csaunders@cmh.edu.
Smith L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Wibrand F; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.
Ravn K; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.
Bross P; Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, 8200 Aarhus, Denmark.
Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Christensen M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.
Atherton A; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Farrow E; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Miller N; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Kingsmore SF; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark. Electronic address: elsebet.ostergaard@dadlnet.dk.

Am J Hum Genet ; 96(2): 258-65, 2015 Feb 05.

Article em En | MEDLINE | ID: mdl-25597511

Assuntos

Anormalidades Múltiplas/genética; Encéfalo/patologia; Endopeptidase Clp/genética; Epilepsia/genética; Erros Inatos do Metabolismo/genética; Doenças Mitocondriais/genética; Anormalidades Múltiplas/patologia; Atrofia/genética; Atrofia/patologia; Sequência de Bases; Catarata/genética; Catarata/patologia; Pré-Escolar; Códon sem Sentido/genética; Endopeptidase Clp/metabolismo; Epilepsia/patologia; Exoma/genética; Evolução Fatal; Feminino; Fibroblastos/metabolismo; Genes Recessivos/genética; Groenlândia; Humanos; Lactente; Recém-Nascido; Fígado/metabolismo; Masculino; Erros Inatos do Metabolismo/patologia; Doenças Mitocondriais/patologia; Dados de Sequência Molecular; Transtornos dos Movimentos/genética; Transtornos dos Movimentos/patologia; Mutação de Sentido Incorreto/genética; Neutropenia/genética; Neutropenia/patologia; Análise de Sequência de DNA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Encéfalo / Doenças Mitocondriais / Endopeptidase Clp / Epilepsia / Erros Inatos do Metabolismo Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: America do norte / Europa Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article

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