1993•Journal of the Neurological SciencesRequires access

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

Giovanni Manfredi, Gabriella Silvestri, Serenella Servidei, Enzo Ricci, Massimiliano Mirabella, Enrico Bertini, Manuela Papacci, Michele Rana, Pietro Attilio Tonali

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Key concepts: Heterozygote advantage, Loss of heterozygosity, Allele, Compound heterozygosity, Genetics, Biology, Phenotype, Disease