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PubMed:20445432 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-112 Sentence denotes A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.
TextSentencer_T2 113-320 Sentence denotes Paramyotonia congenita (PC), first described in 1886 by Eulenberg, is characterized by cold and exercise-induced muscle stiffness and intermittent flaccid paresis not necessarily related to cold or myotonia.
TextSentencer_T3 321-425 Sentence denotes Several authors segregated a pure form of PC, which has no periodic paralysis, even after cold exposure.
TextSentencer_T4 426-493 Sentence denotes The existence of this phenotype has been debated in the literature.
TextSentencer_T5 494-620 Sentence denotes We describe electrophysiological and molecular genetic features of a patient with PC who had no history of periodic paralysis.
TextSentencer_T6 621-699 Sentence denotes Immersion in cold water or potassium load could not induce clinical paralysis.
TextSentencer_T7 700-822 Sentence denotes However, repetitive nerve stimulation and exercise test demonstrated a drop in compound muscle action potential amplitude.
TextSentencer_T8 823-945 Sentence denotes Genetic analysis revealed the substitution of valine for glycine on the human skeletal muscle sodium channel (SCN4A) gene.
TextSentencer_T9 946-1054 Sentence denotes The G1306V mutation is rare in the classic form of PC, and moreover might be the first in pure paramyotonia.
T1 0-112 Sentence denotes A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.
T2 113-320 Sentence denotes Paramyotonia congenita (PC), first described in 1886 by Eulenberg, is characterized by cold and exercise-induced muscle stiffness and intermittent flaccid paresis not necessarily related to cold or myotonia.
T3 321-425 Sentence denotes Several authors segregated a pure form of PC, which has no periodic paralysis, even after cold exposure.
T4 426-493 Sentence denotes The existence of this phenotype has been debated in the literature.
T5 494-620 Sentence denotes We describe electrophysiological and molecular genetic features of a patient with PC who had no history of periodic paralysis.
T6 621-699 Sentence denotes Immersion in cold water or potassium load could not induce clinical paralysis.
T7 700-822 Sentence denotes However, repetitive nerve stimulation and exercise test demonstrated a drop in compound muscle action potential amplitude.
T8 823-945 Sentence denotes Genetic analysis revealed the substitution of valine for glycine on the human skeletal muscle sodium channel (SCN4A) gene.
T9 946-1054 Sentence denotes The G1306V mutation is rare in the classic form of PC, and moreover might be the first in pure paramyotonia.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 209-242 HP_0008967 denotes exercise-induced muscle stiffness
T2 226-242 HP_0003552 denotes muscle stiffness
T3 311-319 HP_0002486 denotes myotonia
T4 380-398 HP_0003768 denotes periodic paralysis
T5 389-398 HP_0003470 denotes paralysis
T6 601-619 HP_0003768 denotes periodic paralysis
T7 610-619 HP_0003470 denotes paralysis
T8 689-698 HP_0003470 denotes paralysis

Allie

Id Subject Object Predicate Lexical cue
SS1_20445432_1_0 113-135 expanded denotes Paramyotonia congenita
SS2_20445432_1_0 137-139 abbr denotes PC
AE1_20445432_1_0 SS1_20445432_1_0 SS2_20445432_1_0 abbreviatedTo Paramyotonia congenita,PC

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20445432-8#4#10#geners80338792 950-956 geners80338792 denotes G1306V
20445432-8#51#53#diseaseC0221055 997-999 diseaseC0221055 denotes PC
4#10#geners8033879251#53#diseaseC0221055 20445432-8#4#10#geners80338792 20445432-8#51#53#diseaseC0221055 associated_with G1306V,PC

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 720-725 http://purl.obolibrary.org/obo/UBERON_0001021 denotes nerve

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 41-59 HP:0003768 denotes periodic paralysis
AB1 209-242 HP:0008967 denotes exercise-induced muscle stiffness
AB2 311-319 HP:0002486 denotes myotonia
AB3 380-398 HP:0003768 denotes periodic paralysis
AB4 601-619 HP:0003768 denotes periodic paralysis
AB5 689-698 HP:0003470 denotes paralysis

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 113-135 ORDO:684 denotes Paramyotonia congenita
TI1 10-32 ORDO:684 denotes paramyotonia congenita

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 720-725 http://purl.obolibrary.org/obo/UBERON_0001021 denotes nerve