Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

Isolated complex II deficiency is a rare cause of mitochondrial disease and bi-allelic mutations in SDHB have been identified in only a few patients with complex II deficiency and a progressive neurological phenotype with onset in infancy. On the other hand, heterozygous SDHB mutations are a well-kn...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Grønborg, Sabine, Darin, Niklas, Miranda, Maria J., Damgaard, Bodil, Cayuela, Jorge Asin, Oldfors, Anders, Kollberg, Gittan, Hansen, Thomas V. O., Ravn, Kirstine, Wibrand, Flemming, Østergaard, Elsebet
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413450/
https://ncbi.nlm.nih.gov/pubmed/27604842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_582
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