Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

Abstract Objectives Congenital myasthenic syndromes (CMSs) are a genotypically and
phenotypically heterogeneous group of neuromuscular disorders, which have in common an …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired
neuromuscular transmission. This review provides an overview on CMS and highlights …

Abstract Purpose of Review Summarize features of the currently recognized congenital
myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years …

Structural variations of the human brain are heritable and highly polygenic traits, with
hundreds of associated genes identified in recent genome-wide association studies …

Congenital myasthenia syndromes are rare but often treatable conditions affecting
neuromuscular transmission. They result from loss or impaired function of one of a number …

Despite recent scientific advances, most rare genetic diseases—including most
neuromuscular diseases—do not currently have curative gene-based therapies available …

Purpose of review Congenital myasthenia syndromes are clinically and genetically
heterogeneous but treatable conditions. Careful selection of drug therapy is paramount as …

The congenital myasthenic syndromes (CMS) are a diverse group of diseases, which result
in an increasing range of phenotypes, but which are all due to inherited defects at the …