Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

Ian Holt, A. E. Harding, J A Morgan-Hughes

Nature

Mitochondrial MyopathyMitochondrial FunctionSkeletal MuscleNatural SciencesGenetics +5

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

Massimo Zeviani, Carlos T. Moraes, S. DiMauro, +4

Neurology

Mitochondrial MyopathyMendelian DisorderMitochondrial FunctionGenetic DisorderNatural Sciences +11

Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer, Robert McFarland, Emma L. Blakely, +5

Annals of Neurology

Diagnostic criteria for respiratory chain disorders in adults and children

François P. Bernier, Avihu Boneh, Xenia Dennett, +3

Neurology

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

Massimo Zeviani, Carlos T. Moraes, S. DiMauro, +4

Neurology

Mitochondrial MyopathyMendelian DisorderMitochondrial FunctionGenetic DisorderNatural Sciences +11

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

Michelangelo Mancuso, Daniele Orsucci, C. Angelini, +28

Neurology

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Michelangelo Mancuso, Daniele Orsucci, C. Angelini, +28

Journal of Neurology

BiologyMendelian DisorderGenetic DisorderGeneticsRelated Phenotypes +3

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Alexander Broomfield, Mary G. Sweeney, Cathy E. Woodward, +9

Journal of Inherited Metabolic Disease

Disease progression in patients with single, large-scale mitochondrial DNA deletions

John P. Grady, G. Campbell, Thiloka Ratnaike, +9

Brain

Mitochondrial MyopathyGenome InstabilityDisease ProgressionMitochondrial FunctionMedicine +13

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

Shintaro Yamashita, Ichizo Nishino, Ikuya Nonaka, +1

Journal of Human Genetics

Genetic AnalysisMitochondrial FunctionMedicineGeneticsPhenotype Analyses +5