Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

BACKGROUND: Isolated complex II deficiency is a rare form of mitochondrial disease, accounting for approximately 2% of all respiratory chain deficiency diagnoses. The succinate dehydrogenase (SDH) genes (SDHA, SDHB, SDHC and SDHD) are autosomally-encoded and transcribe the conjugated heterotetramers...

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書誌詳細
主要な著者: Alston, Charlotte L, Davison, James E, Meloni, Francesca, van der Westhuizen, Francois H, He, Langping, Hornig-Do, Hue-Tran, Peet, Andrew C, Gissen, Paul, Goffrini, Paola, Ferrero, Ileana, Wassmer, Evangeline, McFarland, Robert, Taylor, Robert W
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2012
主題:
Genotype-Phenotype Correlations
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3500770/
https://ncbi.nlm.nih.gov/pubmed/22972948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101146
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