Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.

Guo, Le; Govindaraj, Periyasamy; Kievit, Mariëlle; de Coo, Irenaeus F M; Gerards, Mike; Hellebrekers, Debby M E I; Stassen, Alphons P M; Gayathri, Narayanappa; Taly, Arun B; Sankaran, Bindu Parayil; Smeets, Hubert J M

Guo, Le; Govindaraj, Periyasamy; Kievit, Mariëlle; de Coo, Irenaeus F M; Gerards, Mike; Hellebrekers, Debby M E I; Stassen, Alphons P M; Gayathri, Narayanappa; Taly, Arun B; Sankaran, Bindu Parayil; Smeets, Hubert J M.

Afiliação

Guo L; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.
Govindaraj P; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Center for DNA Fingerprinting and Diagnostics (C
Kievit M; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.
de Coo IFM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.
Gerards M; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Stassen APM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Gayathri N; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Taly AB; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Sankaran BP; The Faculty of Medicine and Health, The Children's Hospital at Westmead Clinical School, Sydney Medical School, The University of Sydney, NSW, Australia.
Smeets HJM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands; School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, th

Neuromuscul Disord ; 31(9): 859-864, 2021 09.

Article em En | MEDLINE | ID: mdl-34419324

Assuntos

Proteínas de Transporte/genética; Sequenciamento do Exoma; Proteínas Mitocondriais/genética; Oftalmoplegia Externa Progressiva Crônica/genética; Adulto; DNA Mitocondrial/genética; Feminino; Homozigoto; Humanos; Mitocôndrias/genética; Mutação; Deleção de Sequência

Palavras-chave

C1QBP gene; Multiple mtDNA deletions; Progressive external ophthalmoplegia; Whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Oftalmoplegia Externa Progressiva Crônica / Proteínas Mitocondriais / Sequenciamento do Exoma Limite: Adult / Female / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda

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