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Current Neurology and Neuroscience Reports, 2004
The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show ...
BRUNO C, MINETTI, CARLO
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The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show ...
BRUNO C, MINETTI, CARLO
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Pediatric Clinics of North America, 1953
TWO years ago I had the privilege of presenting to this Academy our concepts of the pathology, the related dysfunction of the colon, and the surgical treatment of congenital megacolon. I should now like to relate our interim clinical experience with these patients and particularly to stress diagnostic criteria of this disease.
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TWO years ago I had the privilege of presenting to this Academy our concepts of the pathology, the related dysfunction of the colon, and the surgical treatment of congenital megacolon. I should now like to relate our interim clinical experience with these patients and particularly to stress diagnostic criteria of this disease.
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Congenital hypertrichosis lanuginosa and congenital glaucoma
British Journal of Dermatology, 1991An infant with congenital hypertrichosis lanuginosa (CHL) and congenital glaucoma is presented. Both conditions are rare and have not been previously reported to occur in association.
N. S. C. Rice+5 more
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Neurologic Clinics, 1988
AbstractSeveral dozen congenital myopathies are defined by clinical and morphological criteria. The application of the current generation of scientific techniques including immunohistochemistry and molecular genetics has resulted in the expansion of our knowledge and understanding of the well‐established conditions including central core myopathy and ...
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AbstractSeveral dozen congenital myopathies are defined by clinical and morphological criteria. The application of the current generation of scientific techniques including immunohistochemistry and molecular genetics has resulted in the expansion of our knowledge and understanding of the well‐established conditions including central core myopathy and ...
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Congenital Entropion and Congenital Corneal Ulcer
American Journal of Ophthalmology, 1996We studied a case of corneal ulceration in utero from lower eyelid entropion.A 3-week-old male infant was referred for examination of a left corneal ulcer that was present at birth and unresponsive to antibiotics.Examination disclosed a lower eyelid entropion that was treated surgically by a nonincisional method, leaving a central leukoma after re ...
Jack Chapman+3 more
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Congenital Muscular Dystrophies and Congenital Myopathies
CONTINUUM: Lifelong Learning in Neurology, 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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Seminars in Pediatric Neurology, 1991
About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions.
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About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions.
openaire +3 more sources