Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene

[1]  C. Petit,et al.  Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip , 2007, European Journal of Human Genetics.

[2]  Stamatina Giannouli,et al.  Mitochondrial tRNA Mutations: Clinical and Functional Perturbations , 2007, RNA biology.

[3]  D. Kerr,et al.  A novel mutation in the mitochondrial tRNASer(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency , 2006, Journal of Medical Genetics.

[4]  Laura C. Greaves,et al.  Mitochondrial DNA mutations in human disease , 2006, IUBMB life.

[5]  Robert W. Taylor,et al.  Mitochondrial DNA mutations in human disease , 2005, Nature Reviews Genetics.

[6]  M. Zeviani,et al.  Clinical and molecular findings in children with complex I deficiency. , 2004, Biochimica et biophysica acta.

[7]  Robert W. Taylor,et al.  Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. , 2004, Trends in genetics : TIG.

[8]  S. Dimauro,et al.  Mitochondrial Encephalomyopathies: Diagnostic Approach , 2004, Annals of the New York Academy of Sciences.

[9]  S. Dimauro,et al.  Exercise-induced muscle “burning,” fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNAGly , 2002, Neurology.

[10]  A. Kennan,et al.  Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. , 1999, American journal of human genetics.

[11]  D. Turnbull,et al.  Mitochondrial diabetes: investigation and identification of a novel mutation. , 1998, Diabetes.

[12]  E. Shoubridge,et al.  A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. , 1996, Human molecular genetics.

[13]  M. Zeviani,et al.  Neurological presentations of mitochondrial diseases , 1996, Journal of Inherited Metabolic Disease.

[14]  E. Holme,et al.  Inheritance and expression of mitochondrial DNA point mutations. , 1995, Biochimica et biophysica acta.

[15]  E. Holme,et al.  Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. , 1992, American journal of human genetics.

[16]  P. Seibel,et al.  Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. , 1991, Nucleic Acids Research.

[17]  E. Holme,et al.  A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring , 1999, Human mutation.