Browsing by Author "Megeney, Lynn A."
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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 ... -
Regulatory Mechanisms That Guide the Fetal to Postnatal Transition of Cardiomyocytes
Burgon, Patrick G.; Weldrick, Jonathan J.; Talab, Omar Mohamed Sayed Ahmed; Nadeer, Muhammad; Nomikos, Michail; Megeney, Lynn A.... more authors ... less authors ( Multidisciplinary Digital Publishing Institute (MDPI) , 2023 , Article)Heart disease remains a global leading cause of death and disability, necessitating a comprehensive understanding of the heart’s development, repair, and dysfunction. This review surveys recent discoveries that explore the ...