Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally,
FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high …

This article reviews advancements in the genetics of malignant hyperthermia, new
technologies and approaches for its diagnosis, and the existing limitations of genetic testing …

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

The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the
sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining …

Limb‐girdle muscular dystrophies (LGMDs) are a highly heterogeneous group of
neuromuscular disorders that are associated with weakness and wasting of muscles in legs …

Statins are a mainstay intervention for cardiovascular disease prevention, yet their use can
cause rare severe myopathy. HMG-CoA reductase, an essential enzyme in the mevalonate …

Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical
diagnostic testing, including exome sequencing. Some may harbor previously undetected …

Objective: Inherited myopathies comprise more than 200 different individually rare disease-
subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals …

Objectives Clinical diagnostics in adults with hereditary neurological diseases is
complicated by clinical and genetic heterogeneity, as well as lifestyle effects. Here, we …

There has been an ever-expanding list of the Limb–Girdle Muscular Dystrophies (LGMD).
There are currently 8 subtypes of autosomal dominant (AD) and 26 subtypes of autosomal …