Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome

Phelan-McDermid Syndrome (PMS), which is defined by a deletion within 22q13, demonstrates significant phenotypic variation. Given that six mitochondrial genes are located within 22q13, including complex I and IV genes, we hypothesize that mitochondrial complex activity abnormalities may explain phen...

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Detalles Bibliográficos
Autores principales: Frye, Richard E., Cox, Devin, Slattery, John, Tippett, Marie, Kahler, Stephen, Granpeesheh, Doreen, Damle, Shirish, Legido, Agustin, Goldenthal, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731780/
https://www.ncbi.nlm.nih.gov/pubmed/26822410
http://dx.doi.org/10.1038/srep19544

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731780/
https://www.ncbi.nlm.nih.gov/pubmed/26822410
http://dx.doi.org/10.1038/srep19544

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