Results 181 to 190 of about 35,422 (230)
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The Journal of Pediatrics, 1989
We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made.
Q H, Leyten +5 more
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We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made.
Q H, Leyten +5 more
openaire +2 more sources
Congenital muscular dystrophies
Current Opinion in Neurology, 1995Considerable advances in the understanding of congenital muscular dystrophy made during the past year may allow a new clinical classification of this disease. In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it ...
K, Arahata, H, Ishii, Y K, Hayashi
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Congenital muscular dystrophies
Seminars in Pediatric Neurology, 2002The number of new syndromes, loci, and genes responsible for CMD forms has dramatically increased in the last few years, and it has become increasingly evident that the classification of the different forms of CMD is a difficult task. A recent classification separated the forms of CMD that have been mapped (CMD diseases) from the ones with clearly ...
Eugenio, Mercuri +3 more
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Congenital muscular dystrophies
2011Congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders characterized by muscle weakness from birth, or shortly after, and variable clinical manifestations of the eye and central nervous system. Some of these disorders are fatal in the first years of life, whereas others have a milder course, with survival into adulthood. The CMDs
Susan E, Sparks, Diana M, Escolar
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Severe Congenital Muscular Dystrophy
Archives of Pediatrics & Adolescent Medicine, 1967THE history of amyotonia congenita exemplifies impressively how diagnostic inaccuracy hinders scientific progress. Lack of appropriate laboratory tests, clinical follow-ups, and pathological documentation confused the semantics of neonatal and infantile hypotonia for decades.
H, Zellweger +3 more
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Congenital muscular dystrophy with syringomyelia
Pediatric Neurology, 1994We report a 7-year-old boy with congenital muscular dystrophy with severe spinal deformation and low thoracic syringomyelia, which may represent a novel form of the disease with muscle involvement and spinal cord anomaly. We suggest that patients with congenital muscular dystrophy who manifest skeletal anomalies undergo spinal magnetic resonance ...
Parano E +3 more
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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 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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