Cargando…
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
Autores principales: | Hardy, Steven A., Blakely, Emma L., Purvis, Andrew I., Rocha, Mariana C., Ahmed, Syeda, Falkous, Gavin, Poulton, Joanna, Rose, Michael R., O'Mahony, Olivia, Bermingham, Niamh, Dougan, Charlotte F., Ng, Yi Shiau, Horvath, Rita, Turnbull, Doug M., Gorman, Grainne S., Taylor, Robert W. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4972142/ https://www.ncbi.nlm.nih.gov/pubmed/27536729 http://dx.doi.org/10.1212/NXG.0000000000000082 |
Ejemplares similares
-
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
por: Grady, John P, et al.
Publicado: (2018) -
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy
por: Vincent, Amy E., et al.
Publicado: (2016) -
Partial tandem duplication of mtDNA–tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy
por: Arzuffi, Paola, et al.
Publicado: (2012) -
Novel mutations in DNA2 associated with myopathy and mtDNA instability
por: Ronchi, Dario, et al.
Publicado: (2019) -
Aerobic Exercise Training in Patients With mtDNA-Related Mitochondrial Myopathy
por: Jeppesen, Tina Dysgaard
Publicado: (2020)