A novel bi-allelic variant in the SDHB gene causes a severe mitochondrial complex II deficiency: a case report
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Surgery
Reference14 articles.
1. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency;Alston;J. Med. Genet.,2012
2. The genetics and pathology of mitochondrial disease;Alston;J. Pathol.,2017
3. Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance;Ardissone;Mol. Genet. Metab. Rep.,2015
4. The genetic basis of isolated mitochondrial complex II deficiency;Fullerton;Mol. Genet. Metab.,2020
5. Respiratory chain complex II as general sensor for apoptosis;Grimm;Biochim. Biophys. Acta - Bioenerg.,2013
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