Results 41 to 50 of about 39,732 (154)

Paralysis Periodica Paramyotonica Caused by SCN4A Arg1448Cys Mutation

Journal of the Formosan Medical Association, 2006
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.
Wei-Chih Hsu, Yung-Chuan Huang, Chung-Wei Wang, Chia-Hsiang Hsueh, Ling-Ping Lai, Jiann-Horng Yeh   +5 more
doaj   +1 more source

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BackgroundPachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma (PPK) and nail dystrophy, often accompanied by oral leukokeratosis, cysts and follicular keratosis.
Wilson, N. J., Shepherd, A. A., Hansen, C. D., Sprecher, E., Milstone, L. M., McLean, W. H. I., Schwartz, M. E., Al-Asadi, E., Smith, F. J. D., O'Toole, E.   +9 more
core   +1 more source

Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review

Journal of Pediatric Neurosciences, 2013
Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and ...
Rashid Saleem, Gururaj Setty, Arif Khan, Duncan Farrell, Nahin Hussain   +4 more
doaj   +1 more source

Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family [PDF]

, 1994
The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC pheno-type) or changes in ...
L. J. Ptacek, V. Sansone, G. Rotondo, G. Meola   +3 more
core   +1 more source

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

, 1992
Two polymorphic dinucleotide repeats–one (dGdA) n and one (dGdT) n –have been identified at the SCN4A locus, encoding the α-subunit of the adult skeletal muscle sodium channel.
McKenna-Yasek, Diane, Brown, Robert H, Gusella, James F, Raskind, Wendy, Worthen, Hilary G, Radosavljevic, Danica, Pericak-Vance, Margaret, Bird, Thomas, Arahata, Kiichi, Haines, Jonathan L, Van den Bergh, Peter, Gilchrist, James, McClatchey, Andrea I, Trofatter, James   +13 more
core   +4 more sources

Anesthetic management of a patient with sodium-channel myotonia: a case report

JA Clinical Reports, 2019
Background Sodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is ...
Naohisa Matsumoto, Rei Nishimoto, Yoshikazu Matsuoka, Yoshimasa Takeda, Hiroshi Morimatsu   +4 more
doaj   +1 more source

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Frontiers in Neurology, 2020
Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic ...
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi   +31 more
doaj   +1 more source

Paramyotonia congenita of Von Eulenburg

Definitions, 2020
Eulenburg. Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait.

semanticscholar   +1 more source

Pyloromyotomy in a patient with paramyotonia congenita

, 2004
A 2-mo-old infant with paramyotonia. congenita was scheduled for pyloromyotomy and repair of inguinal hernia. Diagnosis of paramyotonia congenita was done with positive family history, myotonia at eyelids, provocation by cold, and electromyogram analysis.

core   +1 more source

Temperature Sensitive Defects in Paramyotonia Congenita Mutants R1448C and T1313M

, 2004
The biophysical origins of paramyotonia congenita and its exacerbation in cold temperatures were examined. Human skeletal muscle voltage-gated sodium channels were expressed in Xenopus oocytes and macroscopic currents were recorded from cell-attached ...
Abbruzzese, Jennifer L., Rubin, Peter C., Dice, Margaret S., Groome, James R., Wheeler, James Thomas, Fujimoto, Esther   +5 more
core   +1 more source