Matches in SemOpenAlex for { <https://semopenalex.org/work/W2468855141> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W2468855141 endingPage "6" @default.
- W2468855141 startingPage "893" @default.
- W2468855141 abstract "We report here a Japanese family with paramyotonia congenita. The proband was a 42-year-old woman (case 1), who noticed muscle stiffness and weakness in the cold since the age of 7 years. These symptoms were alleviated by warming. Her eldest son (case 2) also experienced similar symptoms, while her younger son and daughter were healthy. Neurological examination in case 1 revealed mild weakness in facial and neck muscles. Cold-induced muscle stiffness and weakness were present. Electromyography showed myotonic discharges, intensified by cooling or repetitive exercise. The amplitude of the compound muscle action potentials was also reduced by the repetitive exercise and cooling. Serum chemistry including potassium and CK was normal. Molecular analysis of SCN4A (exon22-24) by SSCP and nucleotide sequencing revealed a C-to-T transition at nucleotide 3,938, causing a substitution of 1313methionine of threonine in case 1. This mutation was confirmed by PCR-RFLP with a mismatched primer; the proband (case 1) and her eldest son (case 2) had a heterozygous mutation, while the other family members did not. This is the first report that a mutation in SCN4A was identified in a Japanese family with paramyotonia congenita." @default.
- W2468855141 created "2016-07-22" @default.
- W2468855141 creator A5006858314 @default.
- W2468855141 creator A5016713260 @default.
- W2468855141 creator A5021891361 @default.
- W2468855141 creator A5080295889 @default.
- W2468855141 creator A5080591890 @default.
- W2468855141 date "1995-08-01" @default.
- W2468855141 modified "2023-09-23" @default.
- W2468855141 title "[A Japanese family with paramyotonia congenita which has a mutation in the muscle sodium channel gene]." @default.
- W2468855141 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8665733" @default.
- W2468855141 hasPublicationYear "1995" @default.
- W2468855141 type Work @default.
- W2468855141 sameAs 2468855141 @default.
- W2468855141 citedByCount "1" @default.
- W2468855141 crossrefType "journal-article" @default.
- W2468855141 hasAuthorship W2468855141A5006858314 @default.
- W2468855141 hasAuthorship W2468855141A5016713260 @default.
- W2468855141 hasAuthorship W2468855141A5021891361 @default.
- W2468855141 hasAuthorship W2468855141A5080295889 @default.
- W2468855141 hasAuthorship W2468855141A5080591890 @default.
- W2468855141 hasConcept C104317684 @default.
- W2468855141 hasConcept C126322002 @default.
- W2468855141 hasConcept C127413603 @default.
- W2468855141 hasConcept C134018914 @default.
- W2468855141 hasConcept C188997412 @default.
- W2468855141 hasConcept C2776767690 @default.
- W2468855141 hasConcept C2777515770 @default.
- W2468855141 hasConcept C2778063965 @default.
- W2468855141 hasConcept C2779372316 @default.
- W2468855141 hasConcept C2780304057 @default.
- W2468855141 hasConcept C2993843704 @default.
- W2468855141 hasConcept C501734568 @default.
- W2468855141 hasConcept C54355233 @default.
- W2468855141 hasConcept C66938386 @default.
- W2468855141 hasConcept C71924100 @default.
- W2468855141 hasConcept C86803240 @default.
- W2468855141 hasConcept C99508421 @default.
- W2468855141 hasConceptScore W2468855141C104317684 @default.
- W2468855141 hasConceptScore W2468855141C126322002 @default.
- W2468855141 hasConceptScore W2468855141C127413603 @default.
- W2468855141 hasConceptScore W2468855141C134018914 @default.
- W2468855141 hasConceptScore W2468855141C188997412 @default.
- W2468855141 hasConceptScore W2468855141C2776767690 @default.
- W2468855141 hasConceptScore W2468855141C2777515770 @default.
- W2468855141 hasConceptScore W2468855141C2778063965 @default.
- W2468855141 hasConceptScore W2468855141C2779372316 @default.
- W2468855141 hasConceptScore W2468855141C2780304057 @default.
- W2468855141 hasConceptScore W2468855141C2993843704 @default.
- W2468855141 hasConceptScore W2468855141C501734568 @default.
- W2468855141 hasConceptScore W2468855141C54355233 @default.
- W2468855141 hasConceptScore W2468855141C66938386 @default.
- W2468855141 hasConceptScore W2468855141C71924100 @default.
- W2468855141 hasConceptScore W2468855141C86803240 @default.
- W2468855141 hasConceptScore W2468855141C99508421 @default.
- W2468855141 hasIssue "8" @default.
- W2468855141 hasLocation W24688551411 @default.
- W2468855141 hasOpenAccess W2468855141 @default.
- W2468855141 hasPrimaryLocation W24688551411 @default.
- W2468855141 hasRelatedWork W2331328692 @default.
- W2468855141 hasRelatedWork W2372754837 @default.
- W2468855141 hasRelatedWork W2383366521 @default.
- W2468855141 hasRelatedWork W2392182952 @default.
- W2468855141 hasRelatedWork W2463255931 @default.
- W2468855141 hasRelatedWork W2468855141 @default.
- W2468855141 hasRelatedWork W2988876791 @default.
- W2468855141 hasRelatedWork W3118975915 @default.
- W2468855141 hasRelatedWork W4281791028 @default.
- W2468855141 hasRelatedWork W2343725014 @default.
- W2468855141 hasVolume "35" @default.
- W2468855141 isParatext "false" @default.
- W2468855141 isRetracted "false" @default.
- W2468855141 magId "2468855141" @default.
- W2468855141 workType "article" @default.