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MARTI, Ramon; NASCIMENTO, Andrés; COLOMER, Jaume; LARA, Mari C; LOPEZ-GALLARDO, Ester; RUIZ-PESINI, Eduardo; MONTOYA, Julio; ANDREU, Antoni L; BRIONES, Paz; PINEDA, Mercè
Pediatric research, 08/2010, Letnik: 68, Številka: 2Journal Article
Mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a devastating disorder of infancy caused by a significant reduction of the number of copies of mitochondrial DNA in one or more tissues. We report a Spanish patient with the myopathic form of MDS, harboring two mutations in the thymidine kinase 2 gene (TK2): a previously reported deletion (p.K244del) and a novel nucleotide duplication in the exon 2, generating a frameshift and premature stop codon. Sensorineural hearing loss was a predominant symptom in the patient and a novel feature of MDS due to TK2 mutations. The patient survived up to the age of 8.5 y, which confirms that survival above the age of 5 y is not infrequent in patients with MDS due to TK2 deficiency.
