Nathalie Deburgrave

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A case of type II recessive congenital methaemoglobinaemia (RCM) observed in a Lebanese subject with a novel mutation in NADH-cytochrome b5 reductase gene is described. A homozygous mutation CAC to(More)
We report a family with an X-linked recessive muscular dystrophy characterised by exercise-induced myalgia, recurrent pigmenturia and mild proximal muscle involvement. Immunocytochemical and(More)