Matches in SemOpenAlex for { <https://semopenalex.org/work/W2021197073> ?p ?o ?g. }
Showing items 1 to 52 of
52
with 100 items per page.
- W2021197073 endingPage "808" @default.
- W2021197073 startingPage "808" @default.
- W2021197073 abstract "Myotonia means reduced ability to relax the muscles after contraction and is caused by various ion channel defects. Mutations in the chloride channel gene CLCN1 are found in Thomsen and Becker congenital myotonia. Mutations in the sodium channel gene SCN4A may give rise to paramyotonia congenita, hyperkalemic periodic paralysis or potassium-sensitive myotonia. Our patient is a seven year old boy with healthy, non-consanguineous parents. His psychomotor milestones were normal. He was admitted at the age of six because of episodes when one or both of his eye lids “fell down”. These episodes had become more prominent during the years. The episodes could be provoked by clapping hands just in front of his eyes or when he was suddenly scared in other ways. It was then difficult for him to re-open the eyes for several seconds. A waxing and waning swelling might also be seen below his eyes, possibly reflecting ongoing myotonia in the orbicularis oculi muscles. He sometimes used his fingers to get the eyes opened more quickly. It was also reported that when he started to walk after having been seated for some time, he often transiently felt stiff in his legs. It appeared that sometimes even his chewing and articulation might be impaired because of stiffness. The problems did not seem to be temperature sensitive. Episodes of paralysis were not reported. His shoulder muscles and the masseter muscle looked hypertrophic. EMG was consistent with extensive myotonia. Gene test for myotonic dystrophy was negative, and no mutation was found in the CLCN1 gene. However, an unclassified heterozygous mutation was detected in the SCN4A gene. Neither of the parents carried this mutation which is estimated as probably pathogenic. Classification of his phenotype will be discussed." @default.
- W2021197073 created "2016-06-24" @default.
- W2021197073 creator A5004197196 @default.
- W2021197073 creator A5016478750 @default.
- W2021197073 creator A5032442234 @default.
- W2021197073 creator A5039404447 @default.
- W2021197073 creator A5090762069 @default.
- W2021197073 date "2013-10-01" @default.
- W2021197073 modified "2023-09-24" @default.
- W2021197073 title "P.12.11 Atypical paramyotonia congenita in a boy with a new mutation in the SCN4A gene" @default.
- W2021197073 doi "https://doi.org/10.1016/j.nmd.2013.06.593" @default.
- W2021197073 hasPublicationYear "2013" @default.
- W2021197073 type Work @default.
- W2021197073 sameAs 2021197073 @default.
- W2021197073 citedByCount "0" @default.
- W2021197073 crossrefType "journal-article" @default.
- W2021197073 hasAuthorship W2021197073A5004197196 @default.
- W2021197073 hasAuthorship W2021197073A5016478750 @default.
- W2021197073 hasAuthorship W2021197073A5032442234 @default.
- W2021197073 hasAuthorship W2021197073A5039404447 @default.
- W2021197073 hasAuthorship W2021197073A5090762069 @default.
- W2021197073 hasConcept C104317684 @default.
- W2021197073 hasConcept C501734568 @default.
- W2021197073 hasConcept C54355233 @default.
- W2021197073 hasConcept C71924100 @default.
- W2021197073 hasConcept C86803240 @default.
- W2021197073 hasConceptScore W2021197073C104317684 @default.
- W2021197073 hasConceptScore W2021197073C501734568 @default.
- W2021197073 hasConceptScore W2021197073C54355233 @default.
- W2021197073 hasConceptScore W2021197073C71924100 @default.
- W2021197073 hasConceptScore W2021197073C86803240 @default.
- W2021197073 hasIssue "9-10" @default.
- W2021197073 hasLocation W20211970731 @default.
- W2021197073 hasOpenAccess W2021197073 @default.
- W2021197073 hasPrimaryLocation W20211970731 @default.
- W2021197073 hasRelatedWork W1562693820 @default.
- W2021197073 hasRelatedWork W1895018249 @default.
- W2021197073 hasRelatedWork W2034625591 @default.
- W2021197073 hasRelatedWork W2068588654 @default.
- W2021197073 hasRelatedWork W2074557265 @default.
- W2021197073 hasRelatedWork W2109451199 @default.
- W2021197073 hasRelatedWork W2135257384 @default.
- W2021197073 hasRelatedWork W2384774992 @default.
- W2021197073 hasRelatedWork W4315629143 @default.
- W2021197073 hasRelatedWork W631795973 @default.
- W2021197073 hasVolume "23" @default.
- W2021197073 isParatext "false" @default.
- W2021197073 isRetracted "false" @default.
- W2021197073 magId "2021197073" @default.
- W2021197073 workType "article" @default.