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Article

SURF1 deficiency: a multi-centre natural history study

5 Jul 2013

Abstract excerpt

Abstract Background SURF1 deficiency, a monogenic mitochondrial disorder, is the most frequent cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS). We report the first natural history study of SURF1 deficiency. Methods We conducted a multi-centre case notes review of 44 SURF1-deficient patients from ten different UK centres and two Australian centres. Survival data for LRPPRC-deficient LS and...

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PMID: 23829769
DOI: 10.1186/1750-1172-8-96

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