Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

BACKGROUND: The tricarboxylic acid (TCA) cycle is a sequence of catabolic reactions within the mitochondrial matrix, and is a central pathway for cellular energy metabolism. Genetic defects affecting the TCA cycle are known to cause severe multisystem disorders. METHODS: We performed whole exome seq...

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Detalles Bibliográficos
Autores principales: Fukada, Masahide, Yamada, Keitaro, Eda, Shima, Inoue, Ken, Ohba, Chihiro, Matsumoto, Naomichi, Saitsu, Hirotomo, Nakayama, Atsuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625133/
https://www.ncbi.nlm.nih.gov/pubmed/31106992
http://dx.doi.org/10.1002/mgg3.698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625133/
https://www.ncbi.nlm.nih.gov/pubmed/31106992
http://dx.doi.org/10.1002/mgg3.698

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