Increasing usage of next-generation sequencing techniques pushed during the last decade
cardiogenetic diagnostics leading to the identification of a huge number of genetic variants …

Advances in DNA sequencing technologies have resulted in a near doubling, in under 10
years, of the number of causal genes identified for inherited neuromuscular disorders …

Mutations in ANO5 (TMEM16E) cause limb-girdle muscular dystrophy R12. Defective
plasma membrane repair is a likely mechanism. Using myofibers from Ano5 knockout mice …

Next-generation sequencing increasingly enables the detection of the genetic cause in
highly heterogeneous diseases like NMDs in an efficient and affordable way. Gene panel …

With the exception of infantile spinal muscular atrophy (SMA) and congenital myotonic
dystrophy 1 (DM1), congenital myopathies and muscular dystrophies with neonatal …

Background Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous,
hereditary disease characterized by limb-girdle weakness and histologically dystrophic …

Background Our aim was to present the experience of systematic, routine use of next
generation sequencing (NGS) in clinical diagnostics of myopathies. Methods Exome …

Background Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary
muscular disorder, characterized by the progressive weakness of the limb-girdle muscles …

Abstract The tropomyosin genes (TPM1-4) contribute to the functional diversity of skeletal
muscle fibers. Since its discovery in 1988, the TPM3 gene has been recognized as an …

Mitochondrial disease (MD) is a group of rare inherited disorders with clinical
heterogeneous phenotypes. Recent advances in next-generation sequencing (NGS) allow …