Mitochondrial disease

J10 Chorea, psychotic symptoms and long survival in a subject with ELAC2 mutations
Martin Paucar, Aleksandra Pajak, Christoph Freyer, Henrik Stranneheim, Anna Wedell, Anna Wredenberg, Per Svenningsson

Journal of Neurology, Neurosurgery & Psychiatry Sep 2016, 87 (Suppl 1) A78-A79; DOI: 10.1136/jnnp-2016-314597.222
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations
Robert D S Pitceathly, Susan E Tomlinson, Iain Hargreaves, Nisha Bhardwaj, Janice L Holton, Jasper M Morrow, Julie Evans, Conrad Smith, Carl Fratter, Cathy E Woodward, Mary G Sweeney, Shamima Rahman, Michael G Hanna

Journal of Neurology, Neurosurgery & Psychiatry Jan 2013, 84 (1) 107-110; DOI: 10.1136/jnnp-2012-303232

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Mitochondrial disease