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Myotonic dystrophy and hyperthyroidism
Neurology, 1981The association of myotonic dystrophy and hyperthyroidism is rare. In the first such case in Japan, hyperthyroidism induced severe exacerbation of muscle weakness, which improved when the thyroid disorder was treated.
Kosuke Mori +4 more
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Myotonic megacolon in myotonic dystrophy
American Journal of Roentgenology, 1978Myotonic dystrophy has been incriminated as a cause for dilatation of the colon. This occurrence has occasionally been mistaken for bowel obstruction, and sumgery has been unnecessarily performed [1 , 2]. Since a spectrum of signs and symptoms may be present in myotonic dystrophy, it is important to keep this possibility in mind in cases of bowel ...
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Neurologic Clinics, 1989
Myotonic muscular dystrophy is inherited as an autosomal dominant disease and affects many different organ systems. Genetic research has located the DM gene to chromosome 19. Using new DNA probes, highly accurate genetic counseling can be provided for families with DM.
Mark J. Alberts, Allen D. Roses
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Myotonic muscular dystrophy is inherited as an autosomal dominant disease and affects many different organ systems. Genetic research has located the DM gene to chromosome 19. Using new DNA probes, highly accurate genetic counseling can be provided for families with DM.
Mark J. Alberts, Allen D. Roses
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Archives of Neurology, 1993
The myotonic dystrophy gene codes for a protein kinase and contains a repeated trinucleotide motif (adenine-guanine-cytosine [AGC]) in its transcribed sequence. The repeat is polymorphic in the general population, varying in size from five to 37 AGC units in normal alleles.
Antonio Pizzuti, Friedman Dl, Caskey Ct
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The myotonic dystrophy gene codes for a protein kinase and contains a repeated trinucleotide motif (adenine-guanine-cytosine [AGC]) in its transcribed sequence. The repeat is polymorphic in the general population, varying in size from five to 37 AGC units in normal alleles.
Antonio Pizzuti, Friedman Dl, Caskey Ct
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2014
Myotonic dystrophy is a progressive, multi-systemic condition causing muscle weakness and myotonia. Additional symptoms include cataracts, gastrointestinal abnormalities, male reduced fertility, diabetes, and cardiac conduction defects. Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion in the DMPK gene and type 2 (DM2) by a CCTG repeat ...
Jill Goldman +2 more
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Myotonic dystrophy is a progressive, multi-systemic condition causing muscle weakness and myotonia. Additional symptoms include cataracts, gastrointestinal abnormalities, male reduced fertility, diabetes, and cardiac conduction defects. Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion in the DMPK gene and type 2 (DM2) by a CCTG repeat ...
Jill Goldman +2 more
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2013
The myotonic dystrophies (DM) are multisystem disorders affecting the skeletal muscle, heart, smooth muscle, skin, eyes, and the endocrine system. Two genetic mutations are known to cause DM (DM1 and DM2). DM2 provides an important second example of a multisystem disease and is generally less severe than DM1.
Bashar Katirji +3 more
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The myotonic dystrophies (DM) are multisystem disorders affecting the skeletal muscle, heart, smooth muscle, skin, eyes, and the endocrine system. Two genetic mutations are known to cause DM (DM1 and DM2). DM2 provides an important second example of a multisystem disease and is generally less severe than DM1.
Bashar Katirji +3 more
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Myotonic Dystrophies and the Heart
Cardiology in Review, 2012Myotonic dystrophy (MD) is a neuromuscular disorder of autosomal dominant inheritance, which is categorized by 2 main sub-types: type 1 (MD1) and type 2 (MD2). This disease is characterized by myotonia and various multisytemic complications, most commonly of the cardiac, endocrine, and central nervous systems.
Sunit-Preet Chaudhry +1 more
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The Indian Journal of Pediatrics, 2001
Myotonic muscular dystrophy is the most frequent autosomal muscular dystrophy affecting adults and children. It affects multiple organ systems and is probably the best example of variable expressivity in a human disease. This article presents a patient with congenital myotonic dystrophy who had facial dysmorphism, hypotonia, talipes, feeding and ...
Rohit Saxena +5 more
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Myotonic muscular dystrophy is the most frequent autosomal muscular dystrophy affecting adults and children. It affects multiple organ systems and is probably the best example of variable expressivity in a human disease. This article presents a patient with congenital myotonic dystrophy who had facial dysmorphism, hypotonia, talipes, feeding and ...
Rohit Saxena +5 more
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Could it be Myotonic Dystrophy? Myotonic Dystrophy Presenting with Atrial Flutter
Scottish Medical Journal, 1992Myotonic dystrophy is a well recognised and well defined multisystem disorder which is inherited in an autosomal dominant fashion through a locus on chromosome 191. The disease itself is characterised by rigidity and degeneration of skeletal muscle, cataract formation, gonadal atrophy, frontal baldness and mental retardation.
A Norris, James S McLay, F Kerr
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Deconstructing Myotonic Dystrophy
Science, 2000Triplet repeat diseases are disorders in which there is expansion of a repeat sequence of three nucleotides in the affected gene. Although the pathology usually results from production of a defective protein, myotonic dystrophy (DM) has proved to be a puzzle because the expanded repeats appear in a non-coding region of the affected DMPK gene.
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