TY - JOUR
T1 - Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation
AU - Cardaioli, Elena
AU - Malfatti, Edoardo
AU - Battisti, Carla
AU - Da Pozzo, Paola
AU - Rubegni, Anna
AU - Gallus, Gian Nicola
AU - Malandrini, Alessandro
AU - Federico, Antonio
PY - 2012/10/15
Y1 - 2012/10/15
N2 - We report a new T8306C transition in the D-stem of the MTTK gene of a 67-year-old man who manifested severe adult onset myopathy, myoclonus, leukoencephalopathy, neurosensory hypoacusis, hypertrophic cardiomyopathy and insulin resistance. No other family member was affected, suggesting that our patient was a sporadic case. The T8306C mutation was heteroplasmic in several tissues of the proband, while it was absent from his asymptomatic siblings. Single fibre analysis confirmed the segregation of higher mutational load in cytochrome c oxidase-deficient fibres. The mutation T8306C is predicted to disrupt a highly conserved base pair and was not found in more than 120 controls. This finding broadens the phenotypic and molecular spectrum of mitochondrial tRNALys associated disorders.
AB - We report a new T8306C transition in the D-stem of the MTTK gene of a 67-year-old man who manifested severe adult onset myopathy, myoclonus, leukoencephalopathy, neurosensory hypoacusis, hypertrophic cardiomyopathy and insulin resistance. No other family member was affected, suggesting that our patient was a sporadic case. The T8306C mutation was heteroplasmic in several tissues of the proband, while it was absent from his asymptomatic siblings. Single fibre analysis confirmed the segregation of higher mutational load in cytochrome c oxidase-deficient fibres. The mutation T8306C is predicted to disrupt a highly conserved base pair and was not found in more than 120 controls. This finding broadens the phenotypic and molecular spectrum of mitochondrial tRNALys associated disorders.
KW - Encephalomyopathies
KW - Heteroplasmy
KW - Mitochondrial DNA
KW - MTTK
KW - Muscle biochemical analysis
KW - Pathogenicity
KW - Single fibre studies
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U2 - 10.1016/j.jns.2012.07.027
DO - 10.1016/j.jns.2012.07.027
M3 - Article
C2 - 22925535
AN - SCOPUS:84866038342
VL - 321
SP - 92
EP - 95
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -