Distrofia muscular de cinturas - doença rara desafiadora para o médico e para o paciente
DOI:
https://doi.org/10.11606/issn.2317-0190.v29iSupl.1a204930Palavras-chave:
Distrofia Muscular, Hereditariedade, Progressão da Doença, Destreza MotoraResumo
A distrofia muscular de cintura/Limb Girdle Muscular Distrophy (DMC/LGMD) é causada por mutações do gene CAPN3 que codifica a proteína Calpaína, que desempenha um papel na manutenção da integridade e função muscular.
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Lasa-Elgarresta J, Mosqueira-Martín L, Naldaiz-Gastesi N, Sáenz A, López de Munain A, Vallejo-Illarramendi A. Calcium mechanisms in limb-girdle muscular dystrophy with CAPN3 mutations. Int J Mol Sci. 2019;20(18):4548. Doi: https://doi.org/10.3390/ijms20184548
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