Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

Mitochondrial disease involving complex II is rare among respiratory chain deficiencies and its genetic cause remains often unknown. Two main clinical presentations are associated with this biochemical defect: mitochondrial encephalomyopathy and susceptibility to tumors. Only one homozygous SDHB mut...

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Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Main Authors: Ardissone, Anna, Invernizzi, Federica, Nasca, Alessia, Moroni, Isabella, Farina, Laura, Ghezzi, Daniele
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2015
Assuntos:
Short Communication
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4695914/
https://ncbi.nlm.nih.gov/pubmed/26925370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.10.006
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