Results 201 to 210 of about 33,763 (228)
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Fetal Diagnosis and Therapy, 2005
We describe a case of severe congenital myotonic dystrophy (CDM). A 38-year-old primigravida, who was known to suffer from mild myotonic dystrophy (DM), conceived spontaneously and booked for confinement at 11 weeks in our unit. The couple had been fully counseled about the risks of transmission of this condition to their offspring before embarking on ...
K, Upadhyay, A, Thomson, M J M, Luckas
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We describe a case of severe congenital myotonic dystrophy (CDM). A 38-year-old primigravida, who was known to suffer from mild myotonic dystrophy (DM), conceived spontaneously and booked for confinement at 11 weeks in our unit. The couple had been fully counseled about the risks of transmission of this condition to their offspring before embarking on ...
K, Upadhyay, A, Thomson, M J M, Luckas
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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.
M J, Alberts, A 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.
M J, Alberts, A D, Roses
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Medical Hypotheses, 1985
Myotonic dystrophy (MYD) has been localized to chromosome 19. Like other hereditary diseases with a genetic locus assigned to chromosome 19, MYD is a genetically inherited autosomal dominant disease. It is speculated that such a genetic pattern may express the characteristics of chromosome 19.
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Myotonic dystrophy (MYD) has been localized to chromosome 19. Like other hereditary diseases with a genetic locus assigned to chromosome 19, MYD is a genetically inherited autosomal dominant disease. It is speculated that such a genetic pattern may express the characteristics of chromosome 19.
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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 ...
S, Gulati +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 ...
S, Gulati +5 more
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Current Opinion in Neurology, 2000
This review demonstrates genetic and phenotypic heterogeneity in all of the multisystemic myotonic disorders collectively called 'myotonic dystrophies' according to the new nomenclature: myotonic dystrophy type 1, myotonic dystrophy type 2, proximal myotonic myopathy and proximal myotonic dystrophy.
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This review demonstrates genetic and phenotypic heterogeneity in all of the multisystemic myotonic disorders collectively called 'myotonic dystrophies' according to the new nomenclature: myotonic dystrophy type 1, myotonic dystrophy type 2, proximal myotonic myopathy and proximal myotonic dystrophy.
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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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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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Seminars in Neurology, 1999
Myotonic dystrophy, or dystrophia myotonica (DM), is the most common inherited muscle disorder in adults. DM is a multisystem disease in which the most disabling feature is muscle wasting that begins in the distal limb and cranial muscles. The genetic basis for DM is an expanded CTG repeat in the DMPK gene on chromosome 19.
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Myotonic dystrophy, or dystrophia myotonica (DM), is the most common inherited muscle disorder in adults. DM is a multisystem disease in which the most disabling feature is muscle wasting that begins in the distal limb and cranial muscles. The genetic basis for DM is an expanded CTG repeat in the DMPK gene on chromosome 19.
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2009
Abstract Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on individuals who are diagnosed with the disease and their families. It is present for many decades of a patient's life but, unlike the other dystrophies, it also affects the organs in the ...
Jeffrey A. Cohen +2 more
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Abstract Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on individuals who are diagnosed with the disease and their families. It is present for many decades of a patient's life but, unlike the other dystrophies, it also affects the organs in the ...
Jeffrey A. Cohen +2 more
+4 more sources