Cargando…
MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles
Autores principales: | Chaussenot, Annabelle, Rouzier, Cécile, Fragaki, Konstantina, Sacconi, Sabrina, Ait-El-Mkadem, Samira, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168751/ https://www.ncbi.nlm.nih.gov/pubmed/30294674 http://dx.doi.org/10.1212/NXG.0000000000000268 |
Ejemplares similares
-
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
por: Plutino, Morgane, et al.
Publicado: (2018) -
Coenzyme Q(10) defects may be associated with a deficiency of Q(10)-independent mitochondrial respiratory chain complexes
por: Fragaki, Konstantina, et al.
Publicado: (2016) -
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs
por: Fragaki, Konstantina, et al.
Publicado: (2019) -
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca(2+) homeostasis and ER-mitochondria interactions
por: Rouzier, Cécile, et al.
Publicado: (2017) -
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca(2+) homeostasis and ER-mitochondria interactions
por: Rouzier, Cécile, et al.
Publicado: (2017)