Electron transfer flavoprotein dehydrogenase, also called ETF-ubiquinone oxidoreductase
(ETF-QO), is a protein localized in the inner membrane of mitochondria, playing a central …

Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type II
(GAII), is a group of clinically heterogeneous disorders caused by mutations in electron …

Exogenous ketone ester supplementation provides a means to increase circulating ketone
concentrations without the dietary challenges imposed by ketogenic diets. Our group has …

The development of therapeutics for muscle diseases such as facioscapulohumeral
dystrophy (FSHD) is impeded by a lack of objective, minimally invasive biomarkers. Here we …

Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogeneous
conditions, presenting with a wide clinical spectrum, leading to progressive proximal …

Background Glutaric aciduria type II (GA2) is a rare genetic disorder inherited in an
autosomal recessive manner. Double dosage mutations in GA2 corresponding genes …

Introduction Metabolic myopathies comprise a clinically etiological diverse group of
disorders caused by defects in cellular energy metabolism including the breakdown of …

Monoclonal gammopathy of undetermined significance (MGUS) associated to sporadic late
onset nemaline myopathy (SLONM) is a rare and severely disabling condition of quickly …