Results 141 to 150 of about 1,125 (172)

Paramyotonia Congenita

Archives of Neurology And Psychiatry, 1958
G A, DRAGER, J F, HAMMILL, G M, SHY
openaire   +2 more sources

[A family of paramyotonia congenita].

Rinsho shinkeigaku = Clinical neurology, 1993
We reported a family with paramyotonia congenita which affected six members through three generations. The homogenous clinical features presenting paramyotonia followed by flaccid tetraparesis were found in all patients. In gene analysis using patient's blood, previously identified sodium channel gene point mutations were not present, suggesting the ...
H, Houzen, Y, Maruo, F, Moriwaka, K, Tashiro, K, Abe   +4 more
openaire   +1 more source

[Eulenburg's paramyotonia congenita].

Revue neurologique, 2008
Paramyotonia congenita is an autosomal dominant sodium channelopathy, caused by mutations in gene coding for muscle voltage-gated sodium channel alpha subunit.We report the case of a 38-year-old man who described since childhood muscle stiffness with attacks ok weakness induced by two provocative stimuli: cold exposure and exercise.
M, Sallansonnet-Froment, P, Bounolleau, T, De Greslan, D, Ricard, H, Taillia, J-L, Renard   +5 more
openaire   +1 more source

Paramyotonia Congenita

Seminars in Neurology, 1991
openaire   +2 more sources

paramyotonia, n.

2023
openaire   +1 more source

Congenital paramyotonia

QJM: An International Journal of Medicine
C Y, Cao, K, Yang, F, Xu, G Q, Du
openaire   +2 more sources

A case of paramyotonia congenita in pregnancy

Obstetric Medicine, 2020
Harriet L Robinson, Emily Brooks
exaly  

Paramyotonia and progressive neurogenic atrophy

Neurology, 1969
R M, Woolsey, J S, Nelson, A A, Rossini
openaire   +2 more sources

[Paramyotonia congenita].

Ryoikibetsu shokogun shirizu, 2001
K, Yoshida, Y, Fukushima
openaire   +3 more sources

Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review

Channels, 2019
Junhong Guo, Xueli Chang
exaly