Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.030 GeneticVariation disease BEFREE Recessive germline mutations in SDHB have recently been associated with complex II deficiency and leukodystrophy in one patient. 24367056 2014
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.030 GeneticVariation disease BEFREE In addition, congenital complex II deficiencies due to inherited homozygous mutations of the catalytic components of complex II (SDHA and SDHB) and the SDHAF1 assembly factor lead to childhood disease including Leigh syndrome, cardiomyopathy and infantile leukodystrophies. 23174333 2013
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.030 GeneticVariation disease BEFREE Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation. 22972948 2012