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sarcoglykanopatie
Č. záznamu d058088 Dátum 06.06.2025 Typ M - MESH Tematický termín sarcoglykanopatie MDT C05.651.534.500.280.500C08.618.923C10.668.491.175.500.149.500C14.280.238.812C16.320.577.280.500 Poznámka Deficiencies 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. predmetové heslo
Počet záznamov: 1