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glykogenóza, typ IIb
Subject h. glykogenóza, typ IIb Subject h. Glycogen Storage Disease Type IIb Entry terms glykogenóza IIb
choroba z ukladania glykogénu, typ IIbScope note in English An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2. 
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