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PubMed:19697366 JSONTXT

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PubMed_ArguminSci

Id Subject Object Predicate Lexical cue
T1 186-410 DRI_Outcome denotes The aims of this study were to (1) characterize the clinical phenotype, (2) define the causative mutation, and (3) correlate the clinical phenotype with genotype in a large consanguineous Arab family with myotonia congenita.
T2 411-491 DRI_Approach denotes Twenty-four family members from three generations were interviewed and examined.
T3 492-591 DRI_Background denotes Genomic DNA was extracted from peripheral blood samples for sequencing the exons of the CLCN1 gene.
T4 592-720 DRI_Approach denotes Twelve individuals with myotonia congenita transmitted the condition in an autosomal dominant manner with incomplete penetrance.
T5 721-815 DRI_Background denotes A novel missense mutation [568GG>TC (G190S)] was found in a dose-dependent clinical phenotype.
T6 816-938 DRI_Background denotes Although heterozygous individuals were asymptomatic or mildly affected, the homozygous individuals were severely affected.
T7 939-1098 DRI_Approach denotes The mutation is a glycine-to-serine residue substitution in a well-conserved motif in helix D of the CLC-1 chloride channel in the skeletal muscle plasmalemma.
T8 1099-1246 DRI_Background denotes A novel mutation, 568GG>TC (G190S) in the CLCN1 gene, is responsible for autosomal dominant myotonia congenita with a variable phenotypic spectrum.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 174-179 gene:1180 denotes CLCN1
T1 0-18 disease:C0027127 denotes Myotonia congenita
T2 174-179 gene:1180 denotes CLCN1
T3 0-18 disease:C2936781 denotes Myotonia congenita
T4 1141-1146 gene:1180 denotes CLCN1
T5 1172-1209 disease:C2936781 denotes autosomal dominant myotonia congenita
R1 T0 T1 associated_with CLCN1,Myotonia congenita
R2 T2 T3 associated_with CLCN1,Myotonia congenita
R3 T4 T5 associated_with CLCN1,autosomal dominant myotonia congenita

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
19697366-8#28#33#geners797045032 1127-1132 geners797045032 denotes G190S
19697366-8#73#110#diseaseC2936781 1172-1209 diseaseC2936781 denotes autosomal dominant myotonia congenita
28#33#geners79704503273#110#diseaseC2936781 19697366-8#28#33#geners797045032 19697366-8#73#110#diseaseC2936781 associated_with G190S,autosomal dominant myotonia congenita

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19697366-0#174#179#gene1180 174-179 gene1180 denotes CLCN1
19697366-0#0#18#diseaseC0027127 0-18 diseaseC0027127 denotes Myotonia congenita
19697366-0#0#18#diseaseC2936781 0-18 diseaseC2936781 denotes Myotonia congenita
174#179#gene11800#18#diseaseC0027127 19697366-0#174#179#gene1180 19697366-0#0#18#diseaseC0027127 associated_with CLCN1,Myotonia congenita
174#179#gene11800#18#diseaseC2936781 19697366-0#174#179#gene1180 19697366-0#0#18#diseaseC2936781 associated_with CLCN1,Myotonia congenita