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Name: l carnitine effects vc acetyl-l-carnitine L-Carnitine and roles and neuroprotection in developing brain Acetyl L-Carnitine vs L-Carnitine: 4
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doi: 10.1073/pnas.1116792109 273 WangG.ShimadaE.KoehlerC

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Here, we present a patient with proximal muscle weakness and atrophy, showing histological features of autophagic vacuoles with sarcolemmal features, who carries a homozygous MCUR1 nonsense mutation