PubMed:25046452 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":112},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":113,"end":222},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":223,"end":504},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":505,"end":588},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":589,"end":674},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":675,"end":740},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":741,"end":980},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":981,"end":1178},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1179,"end":1312},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":112},"obj":"Sentence"},{"id":"T2","span":{"begin":113,"end":222},"obj":"Sentence"},{"id":"T3","span":{"begin":223,"end":504},"obj":"Sentence"},{"id":"T4","span":{"begin":505,"end":588},"obj":"Sentence"},{"id":"T5","span":{"begin":589,"end":674},"obj":"Sentence"},{"id":"T6","span":{"begin":675,"end":740},"obj":"Sentence"},{"id":"T7","span":{"begin":741,"end":980},"obj":"Sentence"},{"id":"T8","span":{"begin":981,"end":1178},"obj":"Sentence"},{"id":"T9","span":{"begin":1179,"end":1312},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.\nClinically manifesting carriers of Duchenne muscular dystrophy (DMD) are rare among the pediatric population. A standardized diagnostic procedure in supposed DMD carriers entails performing a Multiplex Ligation-dependent Probe Amplification analysis of the DMD gene first, then taking a muscle biopsy to confirm reduced dystrophin levels and/or finally a complete sequencing of the DMD gene. We describe a girl with high-elevated creatine kinase, myalgia, and cardiomyopathy. Muscle biopsy showed a dystrophic pattern and nearly absent expression of dystrophin. Diagnosis could not be confirmed by molecular genetic procedures. Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with breakpoint on the X-chromosome within an intron of the DMD gene. The inactivation of the nonderivative X-chromosome was found to be in a nonrandom pattern, resulting in a functionally balanced karyotype and thus leading to a manifesting DMD carrier in this case. Chromosome analysis should be recommended in cases of genetically unsolved DMD carriers as a part of the standard genetic procedures."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":157,"end":175},"obj":"HP_0003560"},{"id":"T2","span":{"begin":534,"end":558},"obj":"HP_0008331"},{"id":"T3","span":{"begin":534,"end":558},"obj":"HP_0003236"},{"id":"T4","span":{"begin":560,"end":567},"obj":"HP_0003326"},{"id":"T5","span":{"begin":573,"end":587},"obj":"HP_0001638"},{"id":"T6","span":{"begin":754,"end":777},"obj":"HP_0001256"},{"id":"T7","span":{"begin":759,"end":777},"obj":"HP_0001249"}],"text":"Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.\nClinically manifesting carriers of Duchenne muscular dystrophy (DMD) are rare among the pediatric population. A standardized diagnostic procedure in supposed DMD carriers entails performing a Multiplex Ligation-dependent Probe Amplification analysis of the DMD gene first, then taking a muscle biopsy to confirm reduced dystrophin levels and/or finally a complete sequencing of the DMD gene. We describe a girl with high-elevated creatine kinase, myalgia, and cardiomyopathy. Muscle biopsy showed a dystrophic pattern and nearly absent expression of dystrophin. Diagnosis could not be confirmed by molecular genetic procedures. Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with breakpoint on the X-chromosome within an intron of the DMD gene. The inactivation of the nonderivative X-chromosome was found to be in a nonrandom pattern, resulting in a functionally balanced karyotype and thus leading to a manifesting DMD carrier in this case. Chromosome analysis should be recommended in cases of genetically unsolved DMD carriers as a part of the standard genetic procedures."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":157,"end":175},"obj":"HP:0003560"},{"id":"TI1","span":{"begin":93,"end":111},"obj":"HP:0003560"},{"id":"AB2","span":{"begin":560,"end":567},"obj":"HP:0003326"},{"id":"AB3","span":{"begin":573,"end":587},"obj":"HP:0001638"}],"text":"Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.\nClinically manifesting carriers of Duchenne muscular dystrophy (DMD) are rare among the pediatric population. A standardized diagnostic procedure in supposed DMD carriers entails performing a Multiplex Ligation-dependent Probe Amplification analysis of the DMD gene first, then taking a muscle biopsy to confirm reduced dystrophin levels and/or finally a complete sequencing of the DMD gene. We describe a girl with high-elevated creatine kinase, myalgia, and cardiomyopathy. Muscle biopsy showed a dystrophic pattern and nearly absent expression of dystrophin. Diagnosis could not be confirmed by molecular genetic procedures. Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with breakpoint on the X-chromosome within an intron of the DMD gene. The inactivation of the nonderivative X-chromosome was found to be in a nonrandom pattern, resulting in a functionally balanced karyotype and thus leading to a manifesting DMD carrier in this case. Chromosome analysis should be recommended in cases of genetically unsolved DMD carriers as a part of the standard genetic procedures."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":148,"end":175},"obj":"ORDO:98896"},{"id":"AB2","span":{"begin":177,"end":180},"obj":"ORDO:98896"},{"id":"TI1","span":{"begin":84,"end":111},"obj":"ORDO:98896"},{"id":"AB3","span":{"begin":271,"end":274},"obj":"ORDO:98896"},{"id":"AB4","span":{"begin":370,"end":373},"obj":"ORDO:98896"},{"id":"AB5","span":{"begin":495,"end":498},"obj":"ORDO:98896"},{"id":"AB6","span":{"begin":971,"end":974},"obj":"ORDO:98896"},{"id":"AB7","span":{"begin":1153,"end":1156},"obj":"ORDO:98896"},{"id":"AB8","span":{"begin":1254,"end":1257},"obj":"ORDO:98896"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.\nClinically manifesting carriers of Duchenne muscular dystrophy (DMD) are rare among the pediatric population. A standardized diagnostic procedure in supposed DMD carriers entails performing a Multiplex Ligation-dependent Probe Amplification analysis of the DMD gene first, then taking a muscle biopsy to confirm reduced dystrophin levels and/or finally a complete sequencing of the DMD gene. We describe a girl with high-elevated creatine kinase, myalgia, and cardiomyopathy. Muscle biopsy showed a dystrophic pattern and nearly absent expression of dystrophin. Diagnosis could not be confirmed by molecular genetic procedures. Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with breakpoint on the X-chromosome within an intron of the DMD gene. The inactivation of the nonderivative X-chromosome was found to be in a nonrandom pattern, resulting in a functionally balanced karyotype and thus leading to a manifesting DMD carrier in this case. Chromosome analysis should be recommended in cases of genetically unsolved DMD carriers as a part of the standard genetic procedures."}