Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation

Journal of the Neurological Sciences

Volumn 321, Issue 1-2, 2012, Pages 92-95

  Cardaioli, Elena ^a   Malfatti, Edoardo ^a,b   Battisti, Carla ^a   Da Pozzo, Paola ^a   Rubegni, Anna ^a   Gallus, Gian Nicola ^a   Malandrini, Alessandro ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Encephalomyopathies; Heteroplasmy; Mitochondrial DNA; MTTK; Muscle biochemical analysis; Pathogenicity; Single fibre studies

Indexed keywords

CREATINE KINASE; CYTOCHROME C OXIDASE; GLUCOSE; LYSINE TRANSFER RNA; MITOCHONDRIAL DNA; PROTEIN MTTK; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

AGED; APNEA; ARTICLE; BASE PAIRING; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CYTOCHROME C OXIDASE DEFICIENCY; DELTOID MUSCLE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FORCED VITAL CAPACITY; GENE MUTATION; GENETIC ASSOCIATION; HEART ARRHYTHMIA; HETEROPLASMY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; HYPOVENTILATION; INSULIN RESISTANCE; KYPHOSIS; LEUKOENCEPHALOPATHY; LORDOSIS; MALE; MUSCLE BIOPSY; MYOCLONUS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; POLYSOMNOGRAPHY; PRIORITY JOURNAL; RESPIRATORY FAILURE; SPINAL MUSCULAR ATROPHY; SPINE DISEASE; STERNOCLEIDOMASTOID MUSCLE; WHIPLASH INJURY;

AGED; CARDIOMYOPATHY, HYPERTROPHIC; DNA MUTATIONAL ANALYSIS; HEARING LOSS, CENTRAL; HUMANS; INSULIN RESISTANCE; LEUKOENCEPHALOPATHIES; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOCLONUS; RNA, TRANSFER, LYS;

EID: 84866038342     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.07.027     Document Type: Article

References (10)

1. R.W. Taylor, and D.M. Turnbull Mitochondrial DNA mutations in human disease Nat Rev Genet 6 2005 389 402
2. M. Zeviani, B. Bertagnolio, and G. Uziel Neurological presentations of mitochondrial diseases J Inherit Metab Dis 19 1996 504 520
3. S. Di Mauro, and E. Bonilla Mitochondrial disorders due to mutations in the mitochondrial genome R.N. Rosemberg, S. Di Mauro, H.L. Paulson, The molecular and genetic basis of neurologic and psychiatric disease 2008 Wolters Kluwer Philadelphia, PA 169 176
4. E. Zifa, S. Giannouli, P. Theotokis, C. Stamatis, Z. Mamuris, and C. Stathopoulos Mitochondrial tRNA mutations: clinical and functional perturbations RNA Biol 4 2007 38 66
5. D. Sternberg, E. Chatzoglou, P. Laforêt, G. Fayet, C. Jardel, and P. Blondy Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain 124 Pt 5 May 2001 984 994
6. E. Malfatti, M. Bugiani, F. Invernizzi, C.F. de Souza, L. Farina, and F. Carrara Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy Brain 130 Pt 7 Jul 2007 1894 1904
7. (Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring Hum Mutat 13 1999 203 209
8. J. Lauber, C. Marsac, B. Kadenbach, and P. Seibel Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases Nucleic Acids Res 19 1991 1393 1397
9. J.W. Yarham, M. Al-Dosary, E.L. Blakely, C.L. Alston, R.W. Taylor, and J.L. Elson A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations Hum Mutat 32 11 Nov 2011 1319 1325
10. E. Holme, M.H. Tulinius, N.G. Larsson, and A. Oldfors Inheritance and expression of mitochondrial DNA point mutations Biochim Biophys Acta 1271 1995 249 252