Article
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.
Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2013
Pitceathly Robert D S, Tomlinson Susan E, Hargreaves Iain, Bhardwaj Nisha, Holton Janice L, Morrow Jasper M, Evans Julie, Smith Conrad, Fratter Carl, Woodward Cathy E, Sweeney Mary G, Rahman Shamima, Hanna Michael G
Abstract excerpt
BACKGROUND: The myopathy associated with mutations in the nuclear-encoded mitochondrial DNA maintenance gene POLG, coding for the catalytic subunit of DNA polymerase, is typically proximal with early ophthalmoplegia. RESULTS: We report two unrelated patients in whom a distal, mainly upper limb, myopathy was the predominant and early clinical feature. One patient also suffered with marked cachexia. DNA genomic...
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