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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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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 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 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 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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1995
Congenital muscular dystrophies (CMD) are a heterogeneous group of congenital myopathies that are hereditary and often progressive. They can be subdivided according to the associated CNS abnormalities: I. CMD with major disturbances of neuronal migration and gyration and with delayed myelination: a. Fukuyama type b.
Marjo S. van der Knaap, Jacob Valk
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Congenital muscular dystrophies (CMD) are a heterogeneous group of congenital myopathies that are hereditary and often progressive. They can be subdivided according to the associated CNS abnormalities: I. CMD with major disturbances of neuronal migration and gyration and with delayed myelination: a. Fukuyama type b.
Marjo S. van der Knaap, Jacob Valk
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