Scapuloperoneal syndrome with mitochondrial DNA deletion.

Pichette, Émilie; O'Ferrall, Erin; Karamchandani, Jason; Savarese, Marco; Udd, Bjarne; Massie, Rami

Pichette, Émilie; O'Ferrall, Erin; Karamchandani, Jason; Savarese, Marco; Udd, Bjarne; Massie, Rami.

Afiliação

Pichette É; Department of Medicine, Faculty of Medicine and Health Sciences, McGill University, 3605 de la Montagne Street, Montreal, QC H3G 2M1, Canada.
O'Ferrall E; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, QC H3A 2B4, Canada.
Karamchandani J; Department of Pathology, Montreal Neurological Institute, McGill University, 3775 University Street, Montreal, QC H3A 2B4, Canada.
Savarese M; Folkhälsan Research Center, Topeliuksenkatu 20, 00250 Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Yliopistonkatu 4, 00100 Helsinki, Finland.
Udd B; Folkhälsan Research Center, Topeliuksenkatu 20, 00250 Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Yliopistonkatu 4, 00100 Helsinki, Finland.
Massie R; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, QC H3A 2B4, Canada. Electronic address: rami.massie@mcgill.ca.

J Neurol Sci ; 434: 120164, 2022 Mar 15.

Article em En | MEDLINE | ID: mdl-35121208

Assuntos

DNA Mitocondrial; Músculos; DNA Mitocondrial/genética; Humanos; Síndrome

Palavras-chave

Maternal inheritance; Mitochondrial DNA deletion; Mitochondrial myopathy; Scapuloperoneal syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Músculos Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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