DISTROFIA MUSCULAR DE STEINERT PDF

La distrofia muscular es un trastorno genético que debilita de forma como enfermedad de Steinert: se trata del tipo distrofia muscular más frecuente en la.

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Obstet Gynecol, 42pp. Minimal somatic instability of CTG repeat in congenital myotonic dystrophy. Plasencia aO. Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. Familial antecedents, severe hypotony or respiratory mmuscular in the neonate are suggestive of the congenital form of myotonic dystrophy.

Masui, 51pp. Correlation of the myotonic syndrome in dystrophic and congenital myotonia. J Perinat Med, 24pp.

Recurrent hydramnios in association with myotonia dystrophica. A report of two cases and a review of the literature. Neonatal form of dystrophia myotonica. Am J Obstet Gynecol, 82pp. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis.

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

Acta Biomed Ateneo Parmense, 71pp. Lancet,pp. Early electromyographic signs in congenital myotonic dystrophy. Curr Opin Neurol, 10pp. J Genet Hum, 28pp.

Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. Nervenarzt, 70pp. Five cases in preterm babies and review of early reports. First-trimester prediction in fetus at risk for myotonic dystrophy. Eguiluz aW. Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death.

Distrofia muscular

A case report and recent literature. Clin Invest Ginecol Obstet, 25pp. Nondystrophinopathic muscular dystrophies including myotonic dystrophy. Pediatr Neurol, 12pp. Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Description of a case presenting with dysphagia. Neurophysiol Clin, 21pp.

J Steeinert Obstet Biol Reprod, 24pp. Arch Dis Child, 67pp. Its association with pregnancy can lead to different problems. The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, intrauterine death, difficulties in expulsion, intra and post partum haemorrhage.