PubMed:11592034 / 1291-1574 JSONTXT

{"project":"ggdb-test","denotations":[{"id":"T12","span":{"begin":17,"end":21},"obj":"https://acgg.asia/db/ggdb/info/gg188"}],"text":"Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function."}

{"project":"PMID_GLOBAL","denotations":[{"id":"T35","span":{"begin":71,"end":74},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T39","span":{"begin":180,"end":198},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A35","pred":"mondo_id","subj":"T35","obj":"0007251"},{"id":"A36","pred":"mondo_id","subj":"T35","obj":"0007397"},{"id":"A37","pred":"mondo_id","subj":"T35","obj":"0019950"},{"id":"A38","pred":"mondo_id","subj":"T35","obj":"0044875"},{"id":"A39","pred":"mondo_id","subj":"T39","obj":"0013598"}],"text":"Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function."}

{"project":"GGDB-2020","denotations":[{"id":"T12","span":{"begin":17,"end":21},"obj":"https://acgg.asia/db/ggdb/info/gg188"}],"text":"Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function."}

{"project":"glycogenes","denotations":[{"id":"PD-GlycoGenes20190927-B_T6","span":{"begin":17,"end":21},"obj":"https://acgg.asia/db/ggdb/info/gg188"}],"text":"Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function."}

{"project":"PubCasesHPO","denotations":[{"id":"AB3","span":{"begin":161,"end":178},"obj":"HP:0002540"}],"text":"Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T4","span":{"begin":254,"end":259},"obj":"http://purl.obolibrary.org/obo/UBERON_0000955"},{"id":"PD-UBERON-AE-B_T7","span":{"begin":220,"end":225},"obj":"http://purl.obolibrary.org/obo/UBERON_0001977"}],"text":"Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T9","span":{"begin":0,"end":283},"obj":"Sentence"},{"id":"T9","span":{"begin":0,"end":283},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T4","span":{"begin":220,"end":225},"obj":"http://purl.obolibrary.org/obo/UBERON_0001977"},{"id":"PD-UBERON-AE-B_T8","span":{"begin":254,"end":259},"obj":"http://purl.obolibrary.org/obo/UBERON_0000955"}],"text":"Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function."}