Article
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.
European journal of human genetics : EJHG - 1 Jun 2017
Nazli Aisha, Safdar Adeel, Saleem Ayesha, Akhtar Mahmood, Brady Lauren I, Schwartzentruber Jeremy, Tarnopolsky Mark A
Abstract excerpt
Recent research has suggested that transmembrane protein 65 (TMEM65) is localized within the inner mitochondrial membrane. Little else is known about its function. In this study we investigated the location and function of TMEM65. Further, we report the functional consequences of a novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene in a patient with mitochondrial encephalomyopathy. Here we...
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