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Myotonic Dystrophy

Known as: MYOTONIC MUSCULAR DYSTROPHY, Myotonia Dystrophica, Steinert's Disease 
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may… 
National Institutes of Health

Related topics

Related topics

20 relations
Congenital Myotonic DystrophyConnective and Soft TissueDMPK geneDNA Repeat Expansion

Narrower (1)

MYOTONIC DYSTROPHY 1

Broader (2)

Muscular Dystrophycongenital neuromuscular disorder

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2006
Review
2006
Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down.
Highly Cited
2000
Highly Cited
2000
Deconstructing Myotonic Dystrophy
Triplet repeat diseases are disorders in which there is expansion of a repeat sequence of three nucleotides in the affected gene… 
Highly Cited
2000
Highly Cited
2000
Progressive Atrioventricular Conduction Block in a Mouse Myotonic Dystrophy Model
Introduction: Myotonic dystrophy is caused by expansion of a CTG trinucleotide repeat on human chromosome 19, and leads to… 
Highly Cited
1997
Highly Cited
1997
Cranial MRI findings in myotonic dystrophy
Abstract MRI was performed in 13 patients with the adult form of myotonic dystrophy (MD) and compared with that of sex- and age… 
Highly Cited
1991
Highly Cited
1991
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.
We have examined the linkage of two new polymorphic DNA markers (D19S62 and D19S63) and a previously unreported polymorphism with… 
Highly Cited
1978
Highly Cited
1978
Myotonic muscular dystrophy: altered calcium transport in erythrocytes.
Erythrocytes from patients with myotonic muscular dystrophy accumulate calcium at a significantly higher rate than normals do… 
Highly Cited
1974
Highly Cited
1974
Muscle membrane protein kinase in myotonic muscular dystrophy
MYOTONIC muscular dystrophy is an inherited disorder of man with manifestations in many organ systems including skeletal muscle… 
Highly Cited
1973
Highly Cited
1973
Protein kinase activity in erythrocyte ghosts of patients with myotonic muscular dystrophy.
Myotonic muscular dystrophy is a disorder of humans that involves many organ systems. Physiological studies have suggested that… 
Highly Cited
1970
Highly Cited
1970
AN ELECTRON MICROSCOPIC INVESTIGATION OF MYOTONIC DYSTROPHY
Muscle biopsies from 7 patients with myotonic dystrophy were studied with the electron microscope. Scattered degeneration of… 
Highly Cited
1969
Highly Cited
1969
Studies of plasma insulin in myotonic dystrophy.
ABSTRACT Plasma insulin response to oral glucose has been studied in 12 patients with myotonic dystrophy. In 7 of 12 patients the… 
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