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New England Journal of Medicine, 1965
ABIOTROPHY of skeletal muscle — that is, degeneration and atrophy after a latent period of apparently normal development and function — is the most obvious common denominator in the group of disorders called the muscular dystrophies. It should be realized, however, that systems other than skeletal muscle are frequently involved in these diseases ...
W S, ZUNDEL, F H, TYLER
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ABIOTROPHY of skeletal muscle — that is, degeneration and atrophy after a latent period of apparently normal development and function — is the most obvious common denominator in the group of disorders called the muscular dystrophies. It should be realized, however, that systems other than skeletal muscle are frequently involved in these diseases ...
W S, ZUNDEL, F H, TYLER
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Seminars in Neurology, 2012
The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset.
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The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset.
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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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PHOSPHODIESTERS IN MUSCULAR DYSTROPHIES
Annals of the New York Academy of Sciences, 1979Phosphorus nuclear magnetic resonance studies of various normal and dystrophic muscles have demonstrated differences in phosphodiester contents. Dystrophic chicken pectoralis muscle contains elevated levels of the diester SEP, and Duchenne dystrophic human leg muscle lacks the diester GPC. It is shown that SEP may be characteristic of slow fiber types,
J M, Chalovich +4 more
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Skeletal muscles remodel and regenerate in response to physiological and pathological conditions. Muscle disorders can be caused by disturbance of molecular and cellular pathways that are important in maintaining muscle homeostasis in response to physiological stimuli and environmental challenges. Muscular dystrophies are a heterogeneous group of rare,
Yi-Wen, Chen +5 more
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Yi-Wen, Chen +5 more
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Muscular Dystrophy in a Dog Resembling Human Becker Muscular Dystrophy
Journal of Comparative Pathology, 2014A 3-year-old, male Labrador retriever dog was presented with clinical signs of progressive exercise intolerance, bilateral elbow extension, rigidity of the forelimbs, hindlimb flexion and kyphosis. Microscopical examination of muscle tissue showed marked variability in myofibre size, replacement of muscle with mature adipose tissue and degeneration ...
Baroncelli AB +6 more
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Continuum, 2013
With transition to the genetic era, the number of muscular dystrophies has grown significantly, but so too has our understanding of their pathogenic underpinnings. Clinical features associated with each muscular dystrophy still guide us to the diagnosis. However, improved diagnostic abilities refine and expand phenotypic and genotypic correlates.
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With transition to the genetic era, the number of muscular dystrophies has grown significantly, but so too has our understanding of their pathogenic underpinnings. Clinical features associated with each muscular dystrophy still guide us to the diagnosis. However, improved diagnostic abilities refine and expand phenotypic and genotypic correlates.
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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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Oculopharyngeal muscular dystrophy: the muscular dystrophies
2001Abstract Sweden, Switzerland, Czech Republic, Taiwan, United Kingdom, United States, Uzbekistan, Uruguay and Yugoslavia. However, OPMD is particularly prevalent in the French–Canadian population (1 1000) and in Bukhara Jews living in Israel (1: 600) (Blumen et al. 1997; Brais et al. 1995).
Bernard Brais, Fernando M S Tomè
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Sarcoglycans in muscular dystrophy
Microscopy Research and Technique, 2000Muscular dystrophy is a heterogeneous genetic disease that affects skeletal and cardiac muscle. The genetic defects associated with muscular dystrophy include mutations in dystrophin and its associated glycoproteins, the sarcoglycans. Furthermore, defects in dystrophin have been shown to cause a disruption of the normal expression and localization of ...
A A, Hack, M E, Groh, E M, McNally
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