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Transcriptomics analyses of unc1 mutants revealed changes in the expression of genes involved in fat metabolism, suggesting that fat metabolism changes, controlled by neurohormonal signalling, contribute to protein homeostasis

Therefore, patients usually present hepatopathy, cardiomyopathy, severe skeletal myopathy and neuropathy, besides biochemical features like hypoketotic hypoglycemia, metabolic acidosis, hypotony and hyperammonemia

Forty-four percent of participants in the study experienced full remission of all BMS symptoms after treatment (x)

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During differentiation, PKC localizes in the nucleus and blocks Hmga1 gene expression to promote myoblast formation [162]