Browsing Chemistry & Earth Sciences by Author "Cotrina-Vinagre, Francisco Javier"

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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase

Lopes Abath Neto, Osorio; Medne, Livija; Donkervoort, Sandra; Rodríguez-García, Maria Elena; Bolduc, Véronique; Hu, Ying; Guadagnin, Eleonora; Foley, A. Reghan; Brandsema, John F.; Glanzman, Allan M.; Tennekoon, Gihan I.; Santi, Mariarita; Berger, Justin H.; Megeney, Lynn A.; Komaki, Hirofumi; Inoue, Michio; Cotrina-Vinagre, Francisco Javier; Hernández-Lain, Aurelio; Martin-Hernández, Elena; Williams, Linford; Borell, Sabine; Schorling, David; Lin, Kimberly; Kolokotronis, Konstantinos; Lichter-Konecki, Uta; Kirschner, Janbernd; Nishino, Ichizo; Banwell, Brenda; Martínez-Azorín, Francisco; Burgon, Patrick G.; Bönnemann, Carsten G.... more authors ... less authors ( Oxford University Press , 2021 , Article)
Striated muscle needs to maintain cellular homeostasis in adaptation to increases in physiological and metabolic demands. Failure to do so can result in rhabdomyolysis. The identification of novel genetic conditions ...