Results 201 to 210 of about 35,591 (238)
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Congenital muscular dystrophies
2001Abstract The clinical diversity of CMD is suggested by the different degrees of motor develop- mental delay, physical disability and muscle pathology, and by the variable presence of mental retardation. Most of the efforts aimed at delineating and subdividing the various CMD forms have originated from the International Consortium on CMD,
Eugenio Mercuri, Francesco Muntoni
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Congenital muscular dystrophies
2013The congenital muscular dystrophies are a heterogeneous group of disorders in which weakness and dystrophic pattern on muscle biopsy are present at birth or during the first months of life. This chapter reviews the most common forms of congenital muscular dystrophies, including laminin α-2 (merosin) deficiency, Ullrich congenital muscular dystrophy ...
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Congenital Muscular Dystrophy and Congenital Myopathy
Continuum, 2019Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. This article summarizes the clinical and genetic aspects of these disorders.Historically, diagnoses of congenital muscular dystrophy and congenital myopathy have
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Congenital muscular dystrophy: A review of the literature
Clinical Neurology and Neurosurgery, 1996Congenital muscular dystrophy (CMD) is a condition in which there are already at birth, marked hypotonia, generalized muscle weakness and frequently multiple contractures. CMD has recently been classified into four categories: CMD I, the classical or "pure' CMD without severe impairment of intellectual development; CMD II, the Fukuyama type CMD with ...
Leyten, Q.H. +3 more
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Cardiac Findings in Congenital Muscular Dystrophies
Pediatrics, 2010Cardiac involvement (CI) in congenital muscular dystrophies (CMDs) has been only rarely investigated so far. By means of a systematic literature search we reviewed the literature about CI in CMD and found that CI is apparently absent in Ullrich CMD or CMD with integrin deficiency and only mild in Bethlem CMD.
FINSTERER J +6 more
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Neurology, 1998
Until several years ago, the congenital muscular dystrophies (CMD) were the "Cinderellas" of the neuromuscular disorders. There was no consensus on the existence of different forms, no knowledge of the pathogenesis, and frequent misdiagnosis. Recently, however, rapid advances in our understanding of various aspects of CMDs have occurred, and CMDs have ...
Francesco Muntoni, Caroline A. Sewry
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Until several years ago, the congenital muscular dystrophies (CMD) were the "Cinderellas" of the neuromuscular disorders. There was no consensus on the existence of different forms, no knowledge of the pathogenesis, and frequent misdiagnosis. Recently, however, rapid advances in our understanding of various aspects of CMDs have occurred, and CMDs have ...
Francesco Muntoni, Caroline A. Sewry
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Congenital Muscular Dystrophies
2017Congenital muscular dystrophies (CMDs) represent a large group of conditions characterised by progressive muscular weakness in early infantile period, elevated serum creatine kinase levels and dystrophic pattern on the muscle biopsy. These can be characterised on the basis of biochemical defects (disorders of glycosylation, defects of structural ...
Satish V. Khadilkar +2 more
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