Heritable neurological disorders provide insights into disease mechanisms that permit
development of novel therapeutic approaches including antisense oligonucleotides, RNA …

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

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

Human movement occurs through contraction of the basic unit of the muscle cell, the
sarcomere. Sarcomeres have long been considered to be arranged end-to-end in series …

Objective To determine the prevalence and clinical features of anti-HMGCR myopathy
among patients with presumed limb-girdle muscular dystrophy (LGMD) in whom genetic …

The limb‐girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous,
autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with …

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 …

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

Neuromuscular diseases are characterized by progressive muscle degeneration and
muscle weakness resulting in functional disabilities. While each of these diseases is …

Limb-girdle muscular dystrophy 2E/R4 is caused by mutations in the β-sarcoglycan (SGCB)
gene, leading to SGCB deficiency and consequent muscle loss. We developed a gene …