Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

Mitochondrial diseases are a group of inherited diseases with highly varied and complex clinical presentations. Here, we report four individuals, including two siblings, affected by a progressive mitochondrial encephalopathy with biallelic variants in the cardiolipin biosynthesis gene CRLS1. Three a...

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Detalles Bibliográficos
Autores principales: Lee, Richard G, Balasubramaniam, Shanti, Stentenbach, Maike, Kralj, Tom, McCubbin, Tim, Padman, Benjamin, Smith, Janine, Riley, Lisa G, Priyadarshi, Archana, Peng, Liuyu, Nuske, Madison R, Webster, Richard, Peacock, Ken, Roberts, Philip, Stark, Zornitza, Lemire, Gabrielle, Ito, Yoko A, Boycott, Kym M, Geraghty, Michael T, van Klinken, Jan Bert, Ferdinandusse, Sacha, Zhou, Ying, Walsh, Rebecca, Marcellin, Esteban, Thorburn, David R, Rosciolli, Tony, Fletcher, Janice, Rackham, Oliver, Vaz, Frédéric M, Reid, Gavin E, Filipovska, Aleksandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9616573/
https://www.ncbi.nlm.nih.gov/pubmed/35147173
http://dx.doi.org/10.1093/hmg/ddac040

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