Results 161 to 170 of about 21,194 (199)
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Merosin and congenital muscular dystrophy
Microscopy Research and Technique, 2000Merosin (also called as Laminin-2) is an isoform of laminin comprised of the alpha2, beta1 and gamma1 chains. In European populations, half of the patients with classical congenital muscular dystrophy have mutations of the LAMA2 gene (6q22-23) and present reduced or absence of laminin alpha2 chain.
Y, Miyagoe-Suzuki +2 more
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Congenital Muscular Dystrophies
Neurologic Clinics, 1988The congenital muscular dystrophies are a group of genetic myopathies characterized by hypotonia, weakness, or arthrogryposis at birth. Classification is inadequate and based entirely upon phenotypic expression, because a genetic marker has not been identified in any of these disorders.
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Congenital Muscular Dystrophy with Leukoencephalopathy
European Neurology, 2008Two patients with ‘benign’ congenital muscular dystrophy (CMD) have been observed for several years. Symptoms and signs of central nervous system (CNS) disease occurred at the age of 7 and 16 years, respectively. CNS involvement in CMD may be more common than generally recognized, slowly progressive and delayed in onset.
E W, Streib, C H, Lucking
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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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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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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
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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