
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation
Keywords: Encephalomyopathies; Mitochondrial DNA; MTTK; Heteroplasmy; Single fibre studies; Pathogenicity; Muscle biochemical analysis