Lipomatosis, proximal myopathy, and the
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Alfredo MuΓ±oz-MΓ‘laga; Juan Bautista; Jose A. Salazar; Isabel Aguilera; Raul Garc
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Article
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2000
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John Wiley and Sons
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English
β 253 KB
Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA-lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged-red fibers (MERRF) and exceptionally in patients with proximal myopathy as th