A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time of the AChR channel in a 5 year-old girl with myasthenic symptoms since birth is reported from the Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN
Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular t...
Once thought to be a single clinical and pathologic entity, congenital MG is now known to be a heter...
The congenital myasthenic syndromes include end-plate (EP) acetylcholinesterase deficiency, presynap...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
The clinical features, course, and presence of acetylcholine receptor antibody (AChRAb) were reviewe...
Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by...
70th Annual Meeting of the American-Academy-of-Neurology (AAN) -- APR 21-27, 2018 -- Los Angeles, CA...
In patients with a congenital deficiency of acetylcholinesterase, weakness, atrophy, fatigability, p...
BACKGROUND: Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to moth...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
BACKGROUND: Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to moth...
INVITED REVIEW ABSTRACT: Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, syn...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted ...
Congenital myasthenic syndromes (CMS) are neuromuscular hereditary diseases with the symptoms of fat...
Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular t...
Once thought to be a single clinical and pathologic entity, congenital MG is now known to be a heter...
The congenital myasthenic syndromes include end-plate (EP) acetylcholinesterase deficiency, presynap...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
The clinical features, course, and presence of acetylcholine receptor antibody (AChRAb) were reviewe...
Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by...
70th Annual Meeting of the American-Academy-of-Neurology (AAN) -- APR 21-27, 2018 -- Los Angeles, CA...
In patients with a congenital deficiency of acetylcholinesterase, weakness, atrophy, fatigability, p...
BACKGROUND: Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to moth...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
BACKGROUND: Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to moth...
INVITED REVIEW ABSTRACT: Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, syn...
Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myas...
A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted ...
Congenital myasthenic syndromes (CMS) are neuromuscular hereditary diseases with the symptoms of fat...
Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular t...
Once thought to be a single clinical and pathologic entity, congenital MG is now known to be a heter...
The congenital myasthenic syndromes include end-plate (EP) acetylcholinesterase deficiency, presynap...