Results 241 to 250 of about 29,255 (302)
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Current Opinion in Neurology, 2002
Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI ...
Ichizo, Nishino, Eijiro, Ozawa
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Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI ...
Ichizo, Nishino, Eijiro, Ozawa
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Clinics in Chest Medicine, 2018
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and ...
John C, Carter +3 more
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Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and ...
John C, Carter +3 more
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The Indian Journal of Pediatrics, 2004
Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect ...
Monisha, Mukherjee, Balraj, Mittal
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Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect ...
Monisha, Mukherjee, Balraj, Mittal
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The Lancet, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes.
Mercuri, Eugenio Maria, Muntoni, F.
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Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes.
Mercuri, Eugenio Maria, Muntoni, F.
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The Indian Journal of Pediatrics, 2000
The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than ...
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The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than ...
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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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Oculogastrointestinal muscular dystrophy
American Journal of Medical Genetics, 1983AbstractThe author reports on four patients (one male, three females) from the same kindred with a newly recognized autosomal recessive condition involving striated and smooth muscle that has been designated oculogastrointestinal muscular dystrophy. It is characterized by ptosis, ophthalmoplegia, and progressive intestinal pseudo‐obstruction leading to
Victor Ionasescu, John M. Opitz
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Neurology India, 2008
AbstractDuchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s.
Yiu, Eppie M., Kornberg, Andrew J.
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AbstractDuchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s.
Yiu, Eppie M., Kornberg, Andrew J.
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Facioscapulohumeral muscular dystrophy
Muscle & Nerve, 2006AbstractFacioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited disorder with an initially restricted pattern of weakness. Early involvement of the facial and scapular stabilizer muscles results in a distinctive clinical presentation. Progression is descending, with subsequent involvement of either the distal anterior leg or hip‐girdle ...
Rabi, Tawil, Silvère M, Van Der Maarel
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