PubMed:15122708 JSONTXT

{"project":"TEST-CellLine","denotations":[{"id":"T1","span":{"begin":357,"end":360},"obj":"CellLine"},{"id":"T2","span":{"begin":976,"end":979},"obj":"CellLine"},{"id":"T3","span":{"begin":1010,"end":1013},"obj":"CellLine"},{"id":"T4","span":{"begin":1238,"end":1241},"obj":"CellLine"},{"id":"T5","span":{"begin":1319,"end":1322},"obj":"CellLine"},{"id":"T6","span":{"begin":1416,"end":1419},"obj":"CellLine"}],"attributes":[{"id":"A6","pred":"cellosaurus_accession_id","subj":"T6","obj":"CVCL_1G81"},{"id":"A5","pred":"cellosaurus_accession_id","subj":"T5","obj":"CVCL_1G81"},{"id":"A4","pred":"cellosaurus_accession_id","subj":"T4","obj":"CVCL_1G81"},{"id":"A3","pred":"cellosaurus_accession_id","subj":"T3","obj":"CVCL_1G81"},{"id":"A2","pred":"cellosaurus_accession_id","subj":"T2","obj":"CVCL_1G81"},{"id":"A1","pred":"cellosaurus_accession_id","subj":"T1","obj":"CVCL_1G81"}],"text":"Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.\nDesmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies."}

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{"project":"TEST-ChemicalEntity","denotations":[{"id":"T1","span":{"begin":88,"end":101},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":585,"end":598},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_80757"},{"id":"A2","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_80757"}],"text":"Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.\nDesmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies."}

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{"project":"Test-GeneOrGeneProduct","denotations":[{"id":"T1","span":{"begin":0,"end":6},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":88,"end":103},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":110,"end":116},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":249,"end":255},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":274,"end":280},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":289,"end":307},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":585,"end":600},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":607,"end":612},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":984,"end":989},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":1077,"end":1082},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":1127,"end":1132},"obj":"GeneOrGeneProduct"}],"text":"Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.\nDesmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies."}

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Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies."}

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Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies."}

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seC0026848"},{"id":"28#43#gene57190209#227#diseaseC0026850","pred":"associated_with","subj":"15122708-4#28#43#gene57190","obj":"15122708-4#209#227#diseaseC0026850"},{"id":"50#55#gene57190261#282#diseaseC0270962","pred":"associated_with","subj":"15122708-4#50#55#gene57190","obj":"15122708-4#261#282#diseaseC0270962"},{"id":"50#55#gene57190261#282#diseaseC1850674","pred":"associated_with","subj":"15122708-4#50#55#gene57190","obj":"15122708-4#261#282#diseaseC1850674"},{"id":"50#55#gene57190261#282#diseaseC0270962","pred":"associated_with","subj":"15122708-4#50#55#gene57190","obj":"15122708-4#261#282#diseaseC0270962"},{"id":"50#55#gene57190261#282#diseaseC1850674","pred":"associated_with","subj":"15122708-4#50#55#gene57190","obj":"15122708-4#261#282#diseaseC1850674"},{"id":"50#55#gene57190130#138#diseaseC0026848","pred":"associated_with","subj":"15122708-4#50#55#gene57190","obj":"15122708-4#130#138#diseaseC0026848"},{"id":"50#55#gene57190209#227#diseaseC0026850","pred":"associated_with","subj":"15122708-4#50#55#gene57190","obj":"15122708-4#209#227#diseaseC0026850"},{"id":"50#55#gene57190130#138#diseaseC0026848","pred":"associated_with","subj":"15122708-4#50#55#gene57190","obj":"15122708-4#130#138#diseaseC0026848"},{"id":"50#55#gene57190209#227#diseaseC0026850","pred":"associated_with","subj":"15122708-4#50#55#gene57190","obj":"15122708-4#209#227#diseaseC0026850"}],"text":"Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.\nDesmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":1143,"end":1168},"obj":"DNAMutation:c|DEL|-19_+73|92"}],"text":"Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.\nDesmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":110,"end":116},"obj":"gene:1674"},{"id":"T1","span":{"begin":172,"end":188},"obj":"disease:C0026848"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.\nDesmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies."}