The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of
function mutations in the genes encoding dystrophin, or the associated proteins, triggers …

Given the global burden of heart failure, strategies to understand the underlying cause or to
provide prognostic information are critical to reducing the morbidity and mortality associated …

Historically, the classification and nomenclature of diseases has not been systematic and
diseases were either classified by cause, presenting symptoms and signs, pathological …

When investigating Mendelian disease using exome or genome sequencing, distinguishing
disease-causing genetic variants from the multitude of candidate variants is a complex …

Objective Limb‐girdle muscular dystrophies (LGMD s), one of the most heterogeneous
neuromuscular disorders (NMD s), involves predominantly proximal‐muscle weakness …

Individuals with lower socio-economic status (SES) are at increased risk of physical and
mental illnesses and tend to die at an earlier age [1–3]. Explanations for the association …

Current programmable nuclease-based methods (for example, CRISPR–Cas9) for the
precise correction of a disease-causing genetic mutation harness the homology-directed …

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 …

Hereditary muscular diseases commonly involve the heart. Cardiac manifestations
encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm …

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 …