PubMed:10690989 / 267-581 JSONTXT

{"project":"PubMed_Structured_Abstracts","denotations":[{"id":"T2","span":{"begin":0,"end":314},"obj":"BACKGROUND"}],"text":"Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel. In order to understand the molecular basis of this inherited disease, it is important to determine the physiologic consequences of mutations found in patients affected by it."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10690989-2#124#129#gene1180","span":{"begin":124,"end":129},"obj":"gene1180"},{"id":"10690989-2#32#46#diseaseC0026848","span":{"begin":32,"end":46},"obj":"diseaseC0026848"}],"relations":[{"id":"124#129#gene118032#46#diseaseC0026848","pred":"associated_with","subj":"10690989-2#124#129#gene1180","obj":"10690989-2#32#46#diseaseC0026848"}],"text":"Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel. In order to understand the molecular basis of this inherited disease, it is important to determine the physiologic consequences of mutations found in patients affected by it."}

{"project":"DisGeNET","denotations":[{"id":"T4","span":{"begin":124,"end":129},"obj":"gene:1180"},{"id":"T5","span":{"begin":0,"end":18},"obj":"disease:C0027127"},{"id":"T6","span":{"begin":124,"end":129},"obj":"gene:1180"},{"id":"T7","span":{"begin":0,"end":18},"obj":"disease:C2936781"},{"id":"T8","span":{"begin":124,"end":129},"obj":"gene:1180"},{"id":"T9","span":{"begin":32,"end":46},"obj":"disease:C0026848"}],"relations":[{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel. In order to understand the molecular basis of this inherited disease, it is important to determine the physiologic consequences of mutations found in patients affected by it."}