The primary muscle disorders are a diverse group of diseases caused by various defective
structural proteins, abnormal signaling molecules, enzymes and proteins involved in …

Increased mitochondrial biogenesis by activation of PPAR- or AMPK/PGC-1α-dependent
homeostatic pathways has been proposed as a treatment for mitochondrial disease. We tested …

Known disease mechanisms in mitochondrial DNA (mtDNA) maintenance disorders alter
either the mitochondrial replication machinery (POLG, POLG2 and C10orf2) 1 , 2 , 3 or the …

An out‐of‐frame mutation of the mitochondrial DNA‐encoded subunit I of cytochrome c oxidase
(COX) was discovered during investigation of a severe isolated muscle COX deficiency …

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular
disorder that is not due to a classical mutation within a protein-coding gene 1 , 2 . Instead, …

Duchenne Muscular Dystrophy (DMD) is caused by mutations in the dystrophin gene leading
to dystrophin deficiency, muscle fiber degeneration and progressive fibrotic replacement of …

Overexpression of mutated superoxide dismutase (SOD1) in transgenic mice causes a
progressive motor neuron degeneration in the spinal cord similar to that in human amyotrophic …

Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical
heterogeneity: seven autosomal dominant and 12 autosomal recessive loci have so far been …

Objectives: Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial
syndrome, mostly caused by the 8344A>G mitochondrial DNA mutation. Most of the previous …

Background Statin drugs (3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors)
reduce the level of cholesterol by inhibiting the synthesis of mevalonate, an intermediary in the …