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Neuropathologic Characterization Of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy And Hydrops Fetalis And Severe Multisystem Respiratory Chain Deficiency Due To Novel Rars2 Mutations

Nichola Z. Lax,Charlotte L. Alston,Katherine Schon,Soo-Mi Park,Deepa Krishnakumar,Langping He,Gavin Falkous,Amanda Ogilvy-Stuart,Christoph Lees, Rosalind H. King,Iain P. Hargreaves,Garry K. Brown,Robert Mcfarland,Andrew F. Dean,Robert W. Taylor

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY（2015）

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关键词
Mitochondrial disease,Pontocerebellar hypoplasia type 6,RARS2,Respiratory chain deficiency
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