Results 121 to 130 of about 1,125 (172)

Pyloromyotomy in a Patient with Paramyotonia Congenita

open access: yesAnesthesia & Analgesia, 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.
Binnaz, Ay   +4 more
openaire   +4 more sources
Some of the next articles are maybe not open access.

Related searches:

Cold-induced abortion in paramyotonia congenita

American Journal of Obstetrics and Gynecology, 1988
Paramyotonia congenita is a rare autosomal dominant disorder with complete penetrance. Its most typical clinical feature is the precipitation of active myotonia by exposure to cold. We report a case of cold-induced abortion in a woman with paramyotonia congenita.
David Chitayat, R D Wilson
exaly   +3 more sources

Paramyotonia congenita (von Eulenburg) in Denmark

Acta Neurologica Scandinavica, 2009
Paramyotonia congenita (von Eulenburg) (PMC) is described in a Danish family in seven generations and 39 persons. PMC has not previously been described in Denmark and an epidemiological description of the family is given. The diagnostic difficulties versus hyperkalemic familial periodic paralysis with myotonia, adynamia episodica hereditaria and ...
T, Johnsen, M L, Friis
exaly   +3 more sources

A SCN4A mutation causing paramyotonia congenita

Neuromuscular Disorders, 2017
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMIM 170500, 613345).
Carlos Rodriguez-Antolin
exaly   +3 more sources

PARAMYOTONIA

open access: yesArchives of Internal Medicine, 1954
WILLIAM TSCHUMY
openaire   +3 more sources

Myotonia, Paramyotonia and Periodic Paralysis

open access: yesElectroencephalography and Clinical Neurophysiology, 1983
Repetitive myotonic discharges in the EMG represent a valuable diagnostic finding in several neuromuscular disorders. However, the underlying mechanisms causing myotonia seem to be quite different. Some findings in only three myotonic disorders are presented: the recessive type of myotonia congenita, paramyotonia congenita and adynamia episodica with ...
K. Ricker
openaire   +2 more sources

Paramyotonia

open access: yes, 2009
Markus Braun-Falco   +199 more
openaire   +2 more sources

Home - About - Disclaimer - Privacy