TY - JOUR T1 - Myotonic dystrophy like mitochondrial myopathy with tRNA<sup>Ala</sup> mutation JF - Journal of Neurology, Neurosurgery &amp; Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 42 LP - 42 VL - 75 IS - 1 A2 - , Y1 - 2004/01/01 UR - http://jnnp.bmj.com/content/75/1/42.abstract N2 - In the past decade there have been reports of over 100 mitochondrial (mt) DNA mutations associated with neuromuscular disease. These have included large scale mtDNA rearrangements, common point mutations in mt tRNA genes, and mutations affecting structural genes of mtDNA encoded respiratory chain subunits. The tRNA mutation of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is located in the tRNALeu (UUR) gene and … ER -