Background and purpose Nemaline myopathy (NEM) has been associated with mutations in
12 genes to date. However, for some patients diagnosed with NEM, definitive mutations are …

Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated
with variants in the kelch-like family member 40 gene (KLHL40). Common features include …

Different genes encode the α-actin isoforms that are predominantly expressed in heart and
skeletal muscle. Mutations in the skeletal muscle α-actin gene (ACTA1) cause muscle …

Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating
factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to …

Background CRISPR/Cas9 is an invaluable tool for studying cell biology and the development
of molecular therapies. However, delivery of CRISPR/Cas9 components into some cell …

McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle
cramps and skeletal muscle damage leading to transient myoglobinuria and increased …

Objectives Systemic lupus erythematosus (SLE; OMIM 152700) is characterised by the
production of antibodies to nuclear antigens. We previously identified variants in complement …

Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage
disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; …

Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino
sheep flocks in Queensland and Western Australia in the 1960s and 1970s. The most …

The pulmonary myocardium is a muscular coat surrounding the pulmonary and caval veins.
Although its definitive physiological function is unknown, it may have a pathological role as …