Results 221 to 230 of about 31,854 (258)
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Neurologic Clinics, 1988
Myotonic dystrophy is an autosomal dominant disorder that results in skeletal muscle weakness and wasting, myotonia, and numerous nonmuscular manifestations including frontal balding, cataracts, gonadal dysfunction, cardiac conduction abnormalities, respiratory insufficiency, and hypersomnolence.
R F, Jozefowicz, R C, Griggs
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Myotonic dystrophy is an autosomal dominant disorder that results in skeletal muscle weakness and wasting, myotonia, and numerous nonmuscular manifestations including frontal balding, cataracts, gonadal dysfunction, cardiac conduction abnormalities, respiratory insufficiency, and hypersomnolence.
R F, Jozefowicz, R C, Griggs
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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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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 ...
A. Thomson +2 more
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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 ...
A. Thomson +2 more
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Myotonic Dystrophy and Leukemia
JAMA: The Journal of the American Medical Association, 1969To the Editor:— The clinician, who finds two or more uncommon and seemingly unrelated diseases in the same person, may wonder if the concurrence is simply coincidental or has larger significance. Should one of the diseases be of unknown origin, recognition of the association may provide clues to its etiology.
Joseph F. Fraumeni +3 more
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Myxedema and Myotonic Dystrophy
Archives of Internal Medicine, 1972The relationship between thyroid dysfunction and diseases of muscle is well-known but not explained; the effect of thyroid hormone on myasthenia gravis, polymositis, and familial periodic paralysis has yet to be clarified. The association of hypothyroidism and a presumably unrelated myopathy in the case we report affords an unusual opportunity to ...
Joel Brumlik, Rudolph J. Maier
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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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Myotonic dystrophy in the neonate
The Journal of Pediatrics, 1972A male infant born at term to a mother with myotonic dystrophy had sufficient evidence of the disease to enable the diagnosis to be made on the first day of postnatal life. Clinical manifestations included profound hypotonia, feeble respiratory efforts, elevation of the right hemidiaphragm, decreased muscle mass in the lower extremities, hirsutism of ...
David B. Bell, David Smith
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Myotonic Dystrophy and Selenium
Acta Medica Scandinavica, 1982ABSTRACT. The correlation between selenium concentration in blood serum and the severity of the disease was investigated in 22 patients with myotonic dystrophy. Their serum concentrations of selenium and some other trace elements were compared with those of a control grup.
Gustav Örndahl, Anders Rindby, E. Selin
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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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