Article
A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.
Neuromuscular disorders : NMD - 1 Mar 2015
McCann Beverly Jo, Tuppen Helen A L, Küsters Benno, Lammens Martin, Smeitink Jan A M, Taylor Robert W, Rodenburg Richard J, Wortmann Saskia B
Abstract excerpt
We present a Dutch family with a novel disease-causing mutation in the mitochondrial tRNA(Ser(UCN)) gene, m.7507A>G. The index patient died during the neonatal period due to cardio-respiratory failure and fatal lactic acidosis. A second patient, his cousin, has severe hearing loss necessitating cochlear implants and progressive exercise intolerance. Laboratory investigations of both patients revealed combined...
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