Results 121 to 130 of about 7,618,843 (150)
CONGENITAL FIBER TYPE DISPROPORTION MYOPATHY IN CHILDREN (P1.133)
Neurology, 2017 Fouad Alghamdi
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Cardiac Manifestations of Congenital Fiber-Type Disproportion Myopathy
Journal of Child Neurology, 1999 Cardiac involvement has not been a reported feature of congenital fiber-type disproportion myopathy. We describe two children, aged 13 years and 1 year, respectively, who presented with serious cardiac symptomatology in conjunction with congenital fiber-type disproportion.
Brenda Banwell +4 more
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Congenital fiber type disproportion myopathy in Lowe syndrome
Pediatric Neurology, 1989 Two brothers with the typical clinical features of oculocerebro-renal syndrome of Lowe exhibited delays in developmental milestones, muscular weakness and hypotonia, and high serum creatine kinase activity. The biopsied muscle revealed selective type 1 fiber atrophy and mild type 1 fiber predominance, similar to that observed in congenital fiber type ...
Jun Kohyama +4 more
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Journal of Pediatric Orthopaedics B, 2009 Foot deformities associated with congenital myopathy are rarely treated surgically; therefore, few reports are available. We present cases of three patients who underwent surgery for foot deformities caused by congenital myopathy. Posteromedial release without talocalcaneal joint release is our surgical procedure.
Hideaki Watanabe, Jiro Machida
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Hormone Research in Paediatrics, 1999 The insulin receptor (IR) in two brothers with a rare syndrome of congenital muscle fiber type disproportion myopathy (CFTDM) associated with diabetes and severe insulin resistance was studied. By direct sequencing of Epstein-Barr virus-transformed lymphocytes both patients were found to be compound heterozygotes for mutations in the IR gene.
Peter Vorwerk +5 more
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Craniofacial abnormalities associated with congenital fiber type disproportion myopathy.
The Journal of clinical pediatric dentistry, 1997 Congenital Fiber-Type Disproportion myopathy (CFTD) is a relatively rare muscular disorder due to predominance and reduction in size of type 1 fibers, with large type 2 fibers. After a review of the clinical and histopathological aspects of the disease, the present work described craniofacial skeletal and EMG features of a 9-year-old child affected by ...
Tiziano Baccetti +2 more
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[Myopathy of congenital fiber type disproportion. Description of a clinical case].
Rivista di neurologia, 1985 Starting from a case they observed and from similar cases of literature, the authors underline the variability of clinical aspects of MDCF which in this case was associated with absence of both motorial acquisitions and skeletal alterations. They underline how their case is characterized by the presence and consistence of musculotendinous retractions ...
Enrico Millefiorini +3 more
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Clinical neuropathology, 2005 Congenital myopathy with fiber-type disproportion is an established disorder, where type I fibers predominate with smallness of the same type. We report a family with three siblings (12-year-old boy, 9-year-old girl, and 6-year-old boy) with clinical features of congenital myopathy, where muscle biopsy in the eldest sib showed fiber-type disproportion.
T. Vasudev Rao, R L Koul, I M Inuwa
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