A number of studies have assessed the efficacy of alglucosidase alfa as an enzyme
replacement therapy (ERT) on motor and respiratory endpoints in patients with late-onset …

Glycogen storage disease type 2/Pompe disease is a progressive muscle disorder with a
wide range of phenotypic presentations, caused by an inherited deficiency of acid alpha …

Background and purpose Pompe disease is a rare inheritable muscle disorder for which
enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for …

The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and
organization remain largely unknown. We report here a novel mitochondrial protein …

Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …

One form of familial progressive external ophthalmoplegia with multiple mitochondrial DNA
deletions recently has been associated with mutations in POLG1, the gene encoding pol γA …

Aims To assess the actual oral health status of Portuguese schoolchildren aged 6 and 12
years according to gender and urbanisation, to highlight the trend over time in dental caries …

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 …

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

Objective Mounting evidence links neurodegenerative disorders such as Parkinson disease
and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on …