Number of the records: 1  

sarcoglykanopatie

  1. Record numberd058088
    Date06.06.2025
    TypeM - MESH
    Topical termsarcoglykanopatie
    UDCC05.651.534.500.280.500C08.618.923C10.668.491.175.500.149.500C14.280.238.812C16.320.577.280.500
    NoteDeficiencies 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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Number of the records: 1  

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