New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset |
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Authors: | María del Mar O’Callaghan Sonia Emperador Ester López-Gallardo Cristina Jou Nuria Buján Raquel Montero àngels Garcia-Cazorla Diana Gonzaga Isidre Ferrer Paz Briones Eduardo Ruiz-Pesini Mercè Pineda Rafael Artuch Julio Montoya |
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Affiliation: | Departments of Pediatric Neurology, Pathology, and Clinical Biochemistry, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain, mocallaghan@hsjdbcn.org. |
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Abstract: | The reported cases showed clinical, biochemical, histopathological, and molecular features lending support to the hypothesis of a pathogenic effect of the detected mutations. Case 1 was a neonatal presentation who showed multiple mitochondrial respiratory chain enzyme defects in muscle associated with a new homoplasmic m.5514A > G transition in the tRNA(Trp) gene. Case 2 was a late infantile presentation who also showed mitochondrial respiratory chain enzyme deficiencies in muscle together with a new m.1643A > G tRNA(Val) mutation in homoplasmy. Case 3 showed a MERRF phenotype presented in childhood associated with the once previously reported m.15923A > G mutation in heteroplasmy in all the tissues studied. |
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