Article
Neuromuscular disease presentation with three genetic defects involving two genomes.
Neuromuscular disorders : NMD - 1 Dec 2009
Al-Dosary Mazhor, Whittaker Roger G, Haughton Joanna, McFarland Robert, Goodship Judith, Turnbull Douglass M, Taylor Robert W
Abstract excerpt
An extensive range of molecular defects have been identified in the human mitochondrial genome (mtDNA), many associated with well-characterised, progressive neurological syndromes. We describe a patient who presented to a mitochondrial clinic with progressive bilateral ptosis, external opthalmoplegia and increasing difficulty with walking. He had previously been diagnosed with a dominant, demyelinating...
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