TY - JOUR
T1 - Congenital myasthenic syndromes in 2012
AU - Engel, Andrew G.
N1 - Funding Information:
Acknowledgment Work in the author’s laboratory was supported by a National Institutes of Health Research Grant NS6277 and by the Muscular Dystrophy Association.
PY - 2012/2
Y1 - 2012/2
N2 - Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region of the motor endplate. The disease proteins identified to date include the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, and Na v1.4, muscle-specific kinase, agrin, β2-laminin, downstream of tyrosine kinase 7, and glutamine-fructose-6- phosphate transaminase 1. Analysis of electrophysiologic and biochemical properties of mutant proteins expressed in heterologous systems have contributed crucially to defining the molecular consequences of the observed mutations and have resulted in improved therapy of most CMS.
AB - Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region of the motor endplate. The disease proteins identified to date include the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, and Na v1.4, muscle-specific kinase, agrin, β2-laminin, downstream of tyrosine kinase 7, and glutamine-fructose-6- phosphate transaminase 1. Analysis of electrophysiologic and biochemical properties of mutant proteins expressed in heterologous systems have contributed crucially to defining the molecular consequences of the observed mutations and have resulted in improved therapy of most CMS.
KW - Acetylcholine receptor (AChR)
KW - Agrin
KW - Choline acetyltransferase
KW - ColQ
KW - Congenital myasthenic syndrome
KW - Dok-7
KW - EMG
KW - Escobar syndrome
KW - GFPT1
KW - MuSK
KW - Neuromuscular junction
KW - Rapsyn
KW - β2-laminin
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U2 - 10.1007/s11910-011-0234-7
DO - 10.1007/s11910-011-0234-7
M3 - Review article
C2 - 21997714
AN - SCOPUS:84857328859
SN - 1528-4042
VL - 12
SP - 92
EP - 101
JO - Current neurology and neuroscience reports
JF - Current neurology and neuroscience reports
IS - 1
ER -