The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from
the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been …

The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and
phenotypic variability. Traditionally, neurophysiology and histopathology were primarily …

Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD)
gene for which testing is mandatory for genetic diagnosis, reproductive choices and …

Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic
basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of …

Introduction: Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular
heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular …

Importance Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The
interpretation of the numerous rare variants identified inTTNis a difficult challenge given its …

Purpose High throughput sequencing analysis has facilitated the rapid analysis of the entire
titin (TTN) coding sequence. This has resulted in the identification of a growing number of …

Mutations in more than 100 different genes are known to cause hereditary primary
myopathies. In patients with less distinct phenotypes several genes may have to be …

A nonsense mutation adds a premature stop signal that hinders any further translation of a
protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions …

Background Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an
important group of muscle diseases of childhood and adulthood, with variable clinical and …