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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family

R. Horvath,J.P. Kemp,H.A.L. Tuppen,G. Hudson,A. Pyle,E. Holinski-Feder,A. Abicht,B. Czermin,M.C. Walter,A. Günther-Scholz,P.M. Smith,R. McFarland,Z.M.A. Chrzanowska-Lightowlers,R.N. Lightowlers,H. Lochmüller,R.W. Taylor,P.F. Chinnery

Neuromuscular Disorders（2010）

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Key words
reversible cox deficiency myopathy,mutation,mt-trnaglu
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