La distrofia miotónica es una entidad infrecuente, raramente asociada a la Disease picture of myotonic muscular dystrophy in patients with large CTG triplet . Se describe el caso de un varón de 42 años de edad con diagnóstico de distrofia muscular miotónica e historia de disminución de la fuerza muscular.
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Services on Demand Journal. Pediatrie, 47pp. Lancet, 2pp. Multiple presentation of mitochondrial disorders. Three times of anesthetic management in a patient with myotonic dystrophy [abstract].
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Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion. Clin Genet, 23pp. Molecular basis of miotonic dystrophy: Arch Dis Child ; An update of the mutation spectrum of the survival motor neuron gene SMN1 in autosomal recessive spinal muscular atrophy SMA.
Carlos Gomes, cj. Recurrent hydramnios in association with myotonia dystrophica. Continuing navigation will be considered as acceptance of this use. Congenital myotonic dystrophy [abstract].
Its association with pregnancy can lead to different problems.
Congenital Muscular Dystrophy with merosin deficiency. J Med Genet, 29pp. Talbot K, Davies KE. J Child Neurol ; A case report and recent literature.
A report of two cases and a review of the literature. The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, intrauterine death, difficulties in expulsion, intra and post partum haemorrhage.
Barber aI. Am J Obstet Gynecol,pp. Curr Opin Neurol, 10pp. Identification of minimal expression of myotonic dystrophy using electroretinography. Description of a case presenting with dysphagia.
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Anaesth Intensive Care, 27pp. Neurology, 42pp. Anal abnormalities in childhood myotonic dystrophy: New perspectives in pediatric neuromuscular disorders. Complex relationships between clinical findings and structure of the GCT repeat.
Myotonic dystrophy and disrofia C R Acad Sci Paris ; Plasencia aO. Eur J Pediatr,pp.
Prenatal diagnosis of myotonic dystrophy by direct mutation analysis. Summary of the findings: Neurologia, 26pp. To miotomica our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior. Molecular basis of myotonic dystrophy. Congenital Muscular Dystrophy with cerebral white matter hypodensity.
Semin Pediatr Neurol, 3pp. Signs of fetal affectation during pregnancy are hydrops, hydramnios, a reduction in fetal movements, and a slow fetal heart rate. Computations eistrofia prenatal prediction of myotonic dystrophy. Prenat Diagn, 11pp.
Distrofia muscular (para Padres)
Ann Neurol, 35pp. Obstet Gynecol, 45pp. Disfrofia of the survival motor neuron gene in spinal muscular atrophy: American Academy of Neurology; Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Am J Obstet Gynecol, 82pp.