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Myotonic Disorders

Known as: Myotonic Myopathies, Disorders, Myotonic, Myotonic Disorder 
An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium… 
National Institutes of Health

Related topics

Related topics

14 relations
Connective and Soft TissueIn BloodMicrobiologicalMusculoskeletal Diseases

Narrower (3)

Myotonia Fluctuans (disorder)Paramyotonia Congenita (disorder)Paramyotonia Congenita Without Cold Paralysis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2004
Highly Cited
2004
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis
Background: Periodic paralysis is classified into hypokalemic (hypoPP) and hyperkalemic (hyperPP) periodic paralysis according to… 
Review
2004
Review
2004
Myotonic dystrophy type 2 and related myotonic disorders
Abstract.The myotonic dystrophies are a group of dominantly inherited disorders characterized by muscle wasting, myotonia… 
Highly Cited
2003
Highly Cited
2003
Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study
Highly Cited
2002
Highly Cited
2002
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Perlecan, a large heparan sulfate proteoglycan, is a component of the basement membrane and other extracellular matrices and has… 
Highly Cited
1999
Highly Cited
1999
Increased calcium entry into dystrophin‐deficient muscle fibres of MDX and ADR‐MDX mice is reduced by ion channel blockers
1 Single fibres were enzymatically isolated from interosseus muscles of dystrophic MDX mice, myotonic‐dystrophic double mutant… 
Review
1998
Review
1998
The effects of myotonic dystrophy and Duchenne muscular dystrophy on the orofacial muscles and dentofacial morphology.
This article takes a closer view of two of the less rare myopathies, myotonic dystrophy (MyD) and Duchenne muscular dystrophy… 
Highly Cited
1996
Highly Cited
1996
Molecular basis for decreased muscle chloride conductance in the myotonic goat.
Certain forms of myotonia, a condition characterized by delayed relaxation of muscle secondary to sarcolemmal hyperexcitability… 
Highly Cited
1990
Highly Cited
1990
Pharmacological studies of human erectile tissue: characteristics of spontaneous contractions and alterations in α‐adrenoceptor responsiveness with age and disease in isolated tissues
1 The pathophysiology of impotence related to vascular smooth muscle dysfunction in the male corpus cavernosum was studied on… 
Highly Cited
1981
Highly Cited
1981
Dialysis encephalopathy, bone disease and anaemia: the aluminum intoxication syndrome during regular haemodialysis.
Clinical features Dialysis encephalopathy, now attributed to aluminium intoxication, is a complication of prolonged haemodialysis… 
Review
1971
Review
1971
Biochemical aspects of muscle disease.
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