We describe a severe form of congenital myasthenic syndrome (CMS) caused by two
heteroallelic mutations: a nonsense and a missense mutation in the gene encoding agrin …

Congenital myasthenic syndromes (CMS) are predominantly characterized by muscle
weakness and fatigability and can be caused by a variety of mutations in genes required for …

Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of
rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is …

We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the
gene encoding agrin, an extracellular matrix molecule released by the nerve and critical for …

Congenital myasthenic syndromes (CMS) are inherited diseases affecting the
neuromuscular junction (NMJ). Mutations in AGRIN (AGRN) and other genes in the AGRIN …

Congenital myasthenic syndromes (CMS) are caused by mutations in molecules expressed
at the neuromuscular junction. We report clinical, structural, ultrastructural, and …

Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of the
neuromuscular junction caused by compromised synaptic transmission. Clinical features …

To determine if patients with myasthenia gravis (MG) have antibodies to agrin, a
proteoglycan released by motor neurons and is critical for neuromuscular junction (NMJ) …

Introduction: Signal transduction at the neuromuscular junction (NMJ) is compromised in a
diverse array of diseases including myasthenia gravis, Lambert-Eaton myasthenic …

Myasthenia gravis (MG) is a common disorder that affects the neuromuscular junction. It is
caused by antibodies against acetylcholine receptor and muscle‐specific tyrosine kinase; …