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

The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …

Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …

Vesicular transport driven by membrane trafficking systems conserved in eukaryotes is
critical to cellular functionality and homeostasis. It is known that homotypic fusion and …

Multisubunit tethering complexes (MTCs) are multitasking hubs that form a link between
membrane fusion, organelle motility and signaling. CORVET, CHEVI and HOPS are MTCs of …

Skeletal muscle, a highly complex muscle type in the eukaryotic system, is characterized by
different muscle subtypes and functions associated with specific myosin isoforms. As a …

Clinical characterization of a patient phenotype has been the quintessential approach for
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …

Purpose We evaluated clinical and genetic features enriched in patients with multiple
Mendelian conditions to determine which patients are more likely to have multiple potentially …

Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint
contractures in two or more body areas. AMC exhibits wide phenotypic and genetic …