Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.

Mancuso, Michelangelo; Ferraris, Silvio; Nishigaki, Yutaka; Azan, Gaetano; Mauro, Alessandro; Sammarco, Piero; Krishna, Sindu; Tay, Stacey K H; Bonilla, Eduardo; Romansky, Stephen G; Hirano, Michio; DiMauro, Salvatore

Mancuso, Michelangelo; Ferraris, Silvio; Nishigaki, Yutaka; Azan, Gaetano; Mauro, Alessandro; Sammarco, Piero; Krishna, Sindu; Tay, Stacey K H; Bonilla, Eduardo; Romansky, Stephen G; Hirano, Michio; DiMauro, Salvatore.

Affiliation

Mancuso M; Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

J Neurol Sci ; 228(1): 93-7, 2005 Jan 15.

Article in En | MEDLINE | ID: mdl-15607216

Subject(s)

DNA, Mitochondrial/genetics; Mitochondrial Myopathies/genetics; Point Mutation; Cysteine/genetics; Cytochrome-c Oxidase Deficiency; DNA Mutational Analysis/methods; Diabetes Complications/complications; Diabetes Complications/genetics; Electron Transport Complex I/metabolism; Electron Transport Complex II/metabolism; Electron Transport Complex III/metabolism; Female; Humans; Infant; Male; Middle Aged; Mitochondrial Myopathies/complications; Muscle, Skeletal/metabolism; Muscle, Skeletal/pathology; RNA, Transfer/genetics; Threonine/genetics

Search on Google

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Point Mutation / Mitochondrial Myopathies Limits: Female / Humans / Infant / Male / Middle aged Language: En Journal: J Neurol Sci Year: 2005 Type: Article Affiliation country: United States

Search on Google

XML

PubMed Links