Article
Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation.
Journal of medical genetics - 1 Jul 1996
Yorifuji T, Kawai M, Momoi T, Sasaki H, Furusho K, Muroi J, Shimizu K, Takahashi Y, Matsumura M, Nambu M, Okuno T
Abstract excerpt
A mitochondrial A 3243 G mutation in the tRNA(Leu(UUR)) gene was first described as a common cause of MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome). This same mutation is also the cause of a totally different disorder, a subtype of diabetes mellitus which is inherited maternally and often associated with sensorineural hearing loss. In this paper, we report on a...
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