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Myotonia Congenita

Known as: Generalized Myotonias, Congenital Myotonia, MYOPATHY, CONGENITAL 
Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other… 
National Institutes of Health

Related topics

Related topics

16 relations

Narrower (5)

Becker Generalized MyotoniaBrody myopathyGeneralized Myotonia of ThomsenNative American myopathy
Congenital myopathy (disorder)Connective and Soft TissueIn BloodMicrobiological

Broader (1)

congenital neuromuscular disorder

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2003
2003
Decrement of compound muscle action potential is related to mutation type in myotonia congenita
Decrement of the compound muscle action potential (CMAP) during 10‐HZ repetitive nerve stimulation is thought to be an unusual… 
1996
1996
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval
Abstract Schwartz-Jampel syndrome (SJS), or chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by… 
Review
1992
Review
1992
Malignant hyperthermia and neuromuscular disease
Highly Cited
1989
Highly Cited
1989
Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica
Myoballs, i.e., spherical muscle cell regenerates, were cultured from the biopsied muscles of three patients with myotonic… 
1988
1988
Malignant hyperthermia in myotonia congenita
We report a family in which two sisters with myotonia congenita (MyC) were referred for malignant hyperthermia (MH) evaluation… 
Highly Cited
1987
Highly Cited
1987
Acetazolamide‐responsive myotonia congenita
We have studied 14 patients from a kindred with an auto-somal dominant form of myotonia, with features differing from most cases… 
Highly Cited
1977
Highly Cited
1977
Electron spin resonance investigations of membrane proteins in erythrocytes in muscle diseases. Duchenne and myotonic muscular dystrophy and congenital myotonia.
Review
1976
Review
1976
Spin label study of erythrocyte membrane fluidity in myotonic and Duchenne muscular dystrophy and congenital myotonia
INTACT erythrocyte membranes from patients with myotonic muscular dystrophy (MMD) have been shown by spin labelling (review of… 
Highly Cited
1972
Highly Cited
1972
Inheritance of malignant hyperpyrexia.
Highly Cited
1937
Highly Cited
1937
EXPERIMENTS WITH QUININE AND PROSTIGMIN IN TREATMENT OF MYOTONIA AND MYASTHENIA
There is acute clinical contrast between myotonia congenita and myasthenia gravis: that of the sthenic and the asthenic; great… 
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