Whole exome sequencing of suspected mitochondrial patients in clinical practice

Mitochondrial disorders are characterized by a broad clinical spectrum. Identical clinical signs and symptoms can be caused by mutations in different mitochondrial or nuclear genes. Vice versa, the same mutation can lead to different phenotypes. Genetic syndromes and neuromuscular disorders mimickin...

Descripción completa

Detalles Bibliográficos
Autores principales: Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432107/
https://www.ncbi.nlm.nih.gov/pubmed/25735936
http://dx.doi.org/10.1007/s10545-015-9823-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432107/
https://www.ncbi.nlm.nih.gov/pubmed/25735936
http://dx.doi.org/10.1007/s10545-015-9823-y

Ejemplares similares