The adaptive response of skeletal muscle to exercise training is tightly controlled and therefore requires transcriptional regulation. DNA methylation is an epigenetic mechanism known to modulate gene expression, but its contribution to exercise-induced adaptations in skeletal muscle is not well studied. Here, we describe a genome-wide analysis of DNA methylation in muscle of trained mice (n = ...

Pena-Shokeir syndrome (PSS) (OMIM 208150) is a rare, early lethal disorder with an estimated incidence of 1:12,000 (1-3) . Approximately one hundred cases have been reported (3). It was first identified by Pena and Shokeir in 1974 (1), although early descriptions resulted in the eponym, it has recently been suggested that Pena-Shokeir is not a specific unitary diagnosis or syndrome, but rather ...

Congenital myasthenic syndromes are a heterogeneous group of genetically determined disorders characterized by impaired neuromuscular transmission. They usually present from birth to childhood and are characterised by exercise induced weakness and fatigability. Genotype-phenotype correlations are difficult. However, in some patients particular phenotypic aspects may point towards a specific gen...