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
Autores principales: Ardissone, Anna, Invernizzi, Federica, Nasca, Alessia, Moroni, Isabella, Farina, Laura, Ghezzi, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4695914/
https://www.ncbi.nlm.nih.gov/pubmed/26925370
http://dx.doi.org/10.1016/j.ymgmr.2015.10.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4695914/
https://www.ncbi.nlm.nih.gov/pubmed/26925370
http://dx.doi.org/10.1016/j.ymgmr.2015.10.006

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