Add to ORKGIn patients with a congenital deficiency of acetylcholinesterase, weakness, atrophy, fatigability, ptosis, and ophthalmoparesis are usually recognized in the first 2 years of life. Autosomal-recessive inheritance is the rule. In most patients, pupillary light responses are abnormally slow. Primary acetylcholine receptor deficiency. Primary acetylcholine receptor kinetic abnormality. Fast-channel syndrome. Slow-channel syndrome
he congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited disorders affect-ing...
The congenital myasthenic syndromes include end-plate (EP) acetylcholinesterase deficiency, presynap...
Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating p...
In patients with a congenital deficiency of acetylcholinesterase, weakness, atrophy, fatigability, p...
These disorders were previously called ""familial infantile myasthenia."" In 1979, however, Hart et ...
Once thought to be a single clinical and pathologic entity, congenital MG is now known to be a heter...
Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular t...
A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time o...
INVITED REVIEW ABSTRACT: Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, syn...
Myasthenia gravis (MG) is an autoimmune disorder characterized by pathogenic antibodies against acet...
Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by...
By the mid-1970s the autoimmune origin of myasthenia gravis had been well established. Once this fea...
Fast channel congenital myasthenic syndromes are rare, but frequently result in severe weakness. We ...
Abstract Objectives Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically he...
The myasthenic syndrome in children can be inherited or of acquired autoimmune origin. In the autoim...
he congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited disorders affect-ing...
The congenital myasthenic syndromes include end-plate (EP) acetylcholinesterase deficiency, presynap...
Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating p...
In patients with a congenital deficiency of acetylcholinesterase, weakness, atrophy, fatigability, p...
These disorders were previously called ""familial infantile myasthenia."" In 1979, however, Hart et ...
Once thought to be a single clinical and pathologic entity, congenital MG is now known to be a heter...
Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular t...
A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time o...
INVITED REVIEW ABSTRACT: Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, syn...
Myasthenia gravis (MG) is an autoimmune disorder characterized by pathogenic antibodies against acet...
Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by...
By the mid-1970s the autoimmune origin of myasthenia gravis had been well established. Once this fea...
Fast channel congenital myasthenic syndromes are rare, but frequently result in severe weakness. We ...
Abstract Objectives Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically he...
The myasthenic syndrome in children can be inherited or of acquired autoimmune origin. In the autoim...
he congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited disorders affect-ing...
The congenital myasthenic syndromes include end-plate (EP) acetylcholinesterase deficiency, presynap...
Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating p...