DISTROFIA DE STEINERT PDF

La enfermedad de Steinert es una rara miopatía hereditaria caracterizada por debilidad muscular generalizada, miotonía y afección multisistémica. Aunque los . Download Citation on ResearchGate | Distrofia miotónica de Steinert | The complexity and variability of the manifestations of myotonic. Distrofia miotónica o enfermedad de Steinert: estudio clínico-histopatológico de tres casos de una família. Arq. Neuro-Psiquiatr. [online]. , vol, n

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J Med Genet, 29pp. Distrofla abnormalities in childhood myotonic dystrophy: Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis. Correlation of the myotonic syndrome in dystrophic and congenital myotonia.

Identification of minimal expression of myotonic dystrophy using electroretinography. Toko-Gin Pract, 61pp. Five cases in preterm babies and review of early reports. Obstet Gynecol, 45pp. Hospital Universitario Materno-Infantil de Canarias. Molecular basis of miotonic dystrophy: Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy.

Arch Dis Child, 54pp. Lancet, 2pp. Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. Pathologica, 84pp. Its association with pregnancy can lead to different problems. Arch Dis Child, 67pp.

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Distrofia miotónica de steinert y gestación | Clínica e Investigación en Ginecología y Obstetricia

Ned Tijdschr Geneeskd,pp. Myotonic dystrophy is an unusual entity, which is rarely associated with pregnancy due to the fact that those people who are affected usually present with genital atrophy and hypogonadism. Continuing navigation will be considered as acceptance of this use. Prenat Diagn, 13pp. Clin Genet, 23pp.

Masui, 51pp. Uterine contractions during labor in myotonic muscular dystrophy. Complex relationships between clinical findings and structure of the GCT repeat. Nervenarzt, 70pp. Minerva Pediatr, 53pp. Prenat Diagn, repp. To improve 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.

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Ann Neurol, 35pp. Am J Obstet Gynecol,pp. Congenital myotonic dystrophy [abstract]. A case report and recent literature. Arch Distrofiz Child, 50pp.

Neurology, 42pp. J Pediatr Ophthalmol Strabismus, 31pp. Myotonic dystrophy with no trinucleotide repeat expansion. Myotonic dystrophy and pregnancy.

Myotonic dystrophy is a significant cause of idiopatic polyhydramnios. Familial antecedents, severe hypotony or respiratory distress in the neonate are suggestive of the congenital form of myotonic dystrophy. Plasencia aO. A study of ten cases. Ultras Obstet Gyneacol [en prensa]. Eur J Pediatr,pp.

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Curr Opin Neurol, 10pp. You can change the settings or obtain more information by clicking here. Neurologia, 26pp. J Gynecol Obstet Biol Reprod, 24pp. Eguiluz aW. First-trimester prediction in fetus at risk for myotonic dystrophy.

Se continuar a navegar, consideramos que aceita o seu uso. The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, intrauterine death, difficulties in expulsion, intra and post partum haemorrhage.

J Reprod Med, 28pp.

Acta Biomed Ateneo Parmense, 71pp. Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death.

Computations for prenatal prediction of myotonic dystrophy.