Results 71 to 80 of about 1,125 (172)

Paralysis Periodica Paramyotonica Caused by Scn4a Arg1448cys Mutation

open access: yes, 2009
Paralysis periodica paramyotonica is an overlapping disease that shares the features of paramyotonia characteristic of paramyotonia congenita (PC) and periodic paralysis characteristic of hyperkalemic periodic paralysis.
HSU, WEI-CHIH;LAI, LING-PING;YEH, JIANN-HORNG   +1 more
core  

Myotonik syndromes - Clinical, electrophysiological and histopathological aspects (analysis of 15 patients)

open access: yes, 1990
Çizgili kasta aktif bir kontraksiyonu takiben hareket impulsu kesilmesine rağmen kas kontraksiyonunun devam "Miyotoni" denir. Myotonik fenomenin görüldüğü, klinik olarak daha sık görülen, otozomal dominant geçişli üç sendrom vardır. 1-Myotonia Congenita,

core  

[A case of paramyotonia congenita].

open access: yesNo to hattatsu = Brain and development, 1985
Arai, Junichi   +4 more
openaire   +2 more sources

The Biophysics of Voltage-Gated Skeletal Muscle Sodium Channels and Muscle Excitability

open access: yes, 1997
Voltage-gated skeletal muscle sodium channels are large transmembrane proteins that are responsible for the initiation and propagation of skeletal muscle action potentials.
Featherstone, David E.
core   +1 more source

Recurrent Severe Viral-Induced Rhabdomyolysis Associated With Underlying Genetic Variants in a Young Adult: A Case Report. [PDF]

open access: yesCureus
Stone AM   +13 more
europepmc   +1 more source

Hyperkalemic Periodic Paralysis in Twenty-Two Family Members Over Four Generations: A Rare Case Report. [PDF]

open access: yesAnn Indian Acad Neurol, 2023
Vivek A   +5 more
europepmc   +1 more source

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