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sarcoglykanopatie

  1. Subject h.sarcoglykanopatie
    Subject h.Sarcoglycanopathies
    Scope note in EnglishDeficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
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