Results 71 to 80 of about 1,125 (172)
Paralysis Periodica Paramyotonica Caused by Scn4a Arg1448cys Mutation
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
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].
Arai, Junichi +4 more
openaire +2 more sources
Hyperkalemic periodic paralysis with paramyotonia and the anaesthetic implications. [PDF]
Sender D, Doyal A.
europepmc +1 more source
The Biophysics of Voltage-Gated Skeletal Muscle Sodium Channels and Muscle Excitability
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
Mitochondrial dysfunction in hyperkalemic periodic paralysis: A case report and literature review. [PDF]
Mikhael FG +3 more
europepmc +1 more source
Myotonia: Recognition, Evaluation, and Differential Diagnosis. [PDF]
Crayle JI, Al-Lozi M, Miller TM.
europepmc +1 more source
Recurrent Severe Viral-Induced Rhabdomyolysis Associated With Underlying Genetic Variants in a Young Adult: A Case Report. [PDF]
Stone AM +13 more
europepmc +1 more source
Hyperkalemic Periodic Paralysis in Twenty-Two Family Members Over Four Generations: A Rare Case Report. [PDF]
Vivek A +5 more
europepmc +1 more source

