Matches in SemOpenAlex for { <https://semopenalex.org/work/W2475434386> ?p ?o ?g. }
- W2475434386 abstract "Publisher Summary Periodic paralyses (PP), paramyotonia congenital (PC), and potassium aggravated myotonia (PAM) are inherited muscle disorders caused by mutation in genes encoding voltage-gated sodium or calcium channels. This chapter provides an overview of clinical features, genetics, pathogenesis, diagnosis, and therapy of the sodium and calcium channelopathies of sarcolemma— i.e., PP (both HyperPP and HypoPP), PC, and PAM. Three sodium channel diseases, hyperkalemic periodic paralysis (HyperPP), PC, and PAM are caused by mutations in the α-subunit of the human skeletal muscle sodium channel, whereas in hypokalemic periodic paralysis (HypoPP) mutations in the α-subunit of the L-type human skeletal muscle calcium channel are found. HyperPP is transmitted as an autosomal dominant trait with complete penetrance. The clinical phenotype of HyperPP is transient episode of muscle weakness or paralysis, often provoked by rest after exercise or by ingestion of potassium-rich food. Potassium loading, cold environment, emotional stress, glucocorticoids, and pregnancy provoke or worsen the attacks. HypoPP is transmitted as an autosmal dominant trait with reduced penetrance in women. The clinical phenotype of HypoPp paralytic attacks is associated with decrease of serum potassium. The major symptoms of HypoPP are on average of longer duration than in HyperPP. The clinical phenotype of PAM is muscle stiffness induced or aggravated by depolarizing agents such as potassium, which is without weakness or cold-sensitivity. The following are the clinical features manifested in PC: paradoxical myotonia, defined as muscle stiffness increasing with continued activity; severe worsening of the myotonia by cold; and weakness after long exposure to cold. This condition is transmitted as a dominant trait with complete penetrance." @default.
- W2475434386 created "2016-08-23" @default.
- W2475434386 creator A5034571694 @default.
- W2475434386 creator A5037236039 @default.
- W2475434386 date "2000-01-01" @default.
- W2475434386 modified "2023-09-27" @default.
- W2475434386 title "Sodium and calcium channelopathies of sarcolemma" @default.
- W2475434386 cites W1494587618 @default.
- W2475434386 cites W1495448148 @default.
- W2475434386 cites W1582683378 @default.
- W2475434386 cites W1669896537 @default.
- W2475434386 cites W1682295403 @default.
- W2475434386 cites W1790723840 @default.
- W2475434386 cites W1812802776 @default.
- W2475434386 cites W1915689849 @default.
- W2475434386 cites W1919640918 @default.
- W2475434386 cites W1966547075 @default.
- W2475434386 cites W1968903551 @default.
- W2475434386 cites W1973420297 @default.
- W2475434386 cites W1975596541 @default.
- W2475434386 cites W1980701240 @default.
- W2475434386 cites W1985543740 @default.
- W2475434386 cites W1987026484 @default.
- W2475434386 cites W1988243883 @default.
- W2475434386 cites W1991321083 @default.
- W2475434386 cites W1992023133 @default.
- W2475434386 cites W1993986937 @default.
- W2475434386 cites W1994450068 @default.
- W2475434386 cites W1996040989 @default.
- W2475434386 cites W1996437700 @default.
- W2475434386 cites W1998006950 @default.
- W2475434386 cites W1998457528 @default.
- W2475434386 cites W1998529806 @default.
- W2475434386 cites W2000058317 @default.
- W2475434386 cites W2001466266 @default.
- W2475434386 cites W2003078639 @default.
- W2475434386 cites W2006986060 @default.
- W2475434386 cites W2008162601 @default.
- W2475434386 cites W2010215247 @default.
- W2475434386 cites W2010361025 @default.
- W2475434386 cites W2011482016 @default.
- W2475434386 cites W2012145920 @default.
- W2475434386 cites W2018057404 @default.
- W2475434386 cites W2018306536 @default.
- W2475434386 cites W2018421929 @default.
- W2475434386 cites W2020184049 @default.
- W2475434386 cites W2020881852 @default.
- W2475434386 cites W2022165197 @default.
- W2475434386 cites W2030118522 @default.
- W2475434386 cites W2031397869 @default.
- W2475434386 cites W2033956152 @default.
- W2475434386 cites W2034169322 @default.
- W2475434386 cites W2036540947 @default.
- W2475434386 cites W2037842214 @default.
- W2475434386 cites W2039877630 @default.
- W2475434386 cites W2042531363 @default.
- W2475434386 cites W2042617550 @default.
- W2475434386 cites W2045139512 @default.
- W2475434386 cites W2046584422 @default.
- W2475434386 cites W2051018818 @default.
- W2475434386 cites W2052107934 @default.
- W2475434386 cites W2055468934 @default.
- W2475434386 cites W2055632081 @default.
- W2475434386 cites W2055902691 @default.
- W2475434386 cites W2056147432 @default.
- W2475434386 cites W2057460931 @default.
- W2475434386 cites W2057501689 @default.
- W2475434386 cites W2057610250 @default.
- W2475434386 cites W2058847522 @default.
- W2475434386 cites W2060126253 @default.
- W2475434386 cites W2060835899 @default.
- W2475434386 cites W2063439463 @default.
- W2475434386 cites W2075836067 @default.
- W2475434386 cites W2075977700 @default.
- W2475434386 cites W2081980989 @default.
- W2475434386 cites W2084163751 @default.
- W2475434386 cites W2084235009 @default.
- W2475434386 cites W2087122819 @default.
- W2475434386 cites W2087424870 @default.
- W2475434386 cites W2090558300 @default.
- W2475434386 cites W2092641460 @default.
- W2475434386 cites W2094677101 @default.
- W2475434386 cites W2097498323 @default.
- W2475434386 cites W2098274843 @default.
- W2475434386 cites W2099684893 @default.
- W2475434386 cites W2100125364 @default.
- W2475434386 cites W2100741949 @default.
- W2475434386 cites W2104689137 @default.
- W2475434386 cites W2105390009 @default.
- W2475434386 cites W2116565867 @default.
- W2475434386 cites W2118779402 @default.
- W2475434386 cites W2119278180 @default.
- W2475434386 cites W2124008559 @default.
- W2475434386 cites W2126725618 @default.
- W2475434386 cites W2130234511 @default.
- W2475434386 cites W2131644453 @default.
- W2475434386 cites W2135271579 @default.
- W2475434386 cites W2135381862 @default.
- W2475434386 cites W2139528954 @default.
- W2475434386 cites W2140702079 @default.