Results 191 to 200 of about 38,417 (217)
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An Overview of Congenital Myopathies
Continuum, 2016This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies.Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental ...
Jean K, Mah, Jeffrey T, Joseph
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The genetics of congenital myopathies
2018Congenital myopathies are a clinically and genetically heterogeneous group of conditions that most commonly present at or around the time of birth with hypotonia, muscle weakness, and (often) respiratory distress. Historically, this group of disorders has been subclassified based on muscle histopathologic characteristics. There has been an explosion of
Hernan D, Gonorazky +2 more
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Congenital and metabolic myopathies
Brain and Development, 1983Among various myopathies, two distinct groups are briefly summarized: congenital myopathies of which the disease concepts are based on the morphological findings of the structure of muscle fibers, and metabolic myopathies in which muscular involvement has been clarified or strongly suggested to be due to primary biochemical defects within the fibers ...
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Congenital Muscular Dystrophies and Congenital Myopathies
Continuum, 2013The purpose of this review is to provide information regarding the diagnosis and natural history of some very rare disorders: congenital muscular dystrophies and congenital myopathies. Patients with these conditions share characteristics such as early onset of weakness and severe hypotonia. Other organs such as the brain, eyes, and skin may be involved.
Susan T, Iannaccone, Diana, Castro
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Congenital myopathies and congenital muscular dystrophies
Current Opinion in Neurology, 2001Congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. Congenital myopathic dystrophy is characterized by a dystrophic pattern, whereas no necrotic or degenerative changes are present in congenital myopathies.
N, Tubridy, B, Fontaine, B, Eymard
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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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STAC3 related congenital myopathy: A case series of seven Comorian patients
European Journal of Medical Genetics, 2022Jean-Luc Alessandri
exaly
Journal of Comparative Pathology and Therapeutics, 1961
D I, NISBET, C C, RENWICK
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D I, NISBET, C C, RENWICK
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