Condition: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY


rs121909515 in C17orf107;CHRNE gene and MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 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.

PMID 9668239 1998 A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.

PMID 10514102 1999 Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.

PMID 16550914 2005 Splicing abnormalities in congenital myasthenic syndromes.

rs121909514 in CHRNE;C17orf107 gene and MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 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.

rs104894299 in RAPSN gene and MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 14659409 2004 Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

PMID 17190963 2006 Unusual features in a boy with the rapsyn N88K mutation.

PMID 12730725 2003 Identification of pathogenic mutations in the human rapsyn gene.

PMID 12807980 2003 Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

PMID 15328566 2004 Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.

PMID 12796535 2003 Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

PMID 15482960 2004 A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

PMID 15036330 2004 Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.

PMID 19620612 2009 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

PMID 20157724 2010 Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

PMID 11791205 2002 Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

PMID 21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

PMID 16945936 2006 Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.