Mitochondrial complex II deficiency
Definition:
References:
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[1]. Charlotte L Alston, et al. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet. 2012 Sep;49(9):569-77. [Content Brief]
[2]. Christopher Benjamin Jackson, et al. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. J Med Genet. 2014 Mar;51(3):170-5. [Content Brief]
[3]. Daniele Ghezzi, et al. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet. 2009 Jun;41(6):654-6. [Content Brief]
[4]. Shailly Jain-Ghai, et al. Complex II deficiency--a case report and review of the literature. Am J Med Genet A. 2013 Feb;161A(2):285-94. [Content Brief]
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