Condition: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL


rs121909510 in C17orf107;CHRNE gene and MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL PMID 27375219 2016 Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.

PMID 7531341 1995 Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

PMID 7538206 1995 A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.

PMID 8872460 1996 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

PMID 12141316 2002 Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.

PMID 21822932 2012 A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.

PMID 27779167 2016 A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.

PMID 14592868 2003 Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.

PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

PMID 12417530 2002 Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

PMID 9158150 1997 Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.

rs121909512 in CHRNE;C17orf107 gene and MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL PMID 8755487 1996 Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.

PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.