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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Description of a case presenting with dysphagia. Familial antecedents, severe hypotony or respiratory distress in the neonate are suggestive of the congenital form of myotonic dystrophy. Pathologica, 84pp.

Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. Neurologia, 26pp. Obstetric complications as the first sign of myotonic dystrophy. Tidsskr Nor Laegeforen,pp. Myotonic dystrophy with no trinucleotide repeat expansion. Complex ds between clinical findings and structure of the GCT repeat.

Obstet Gynecol, 42pp. Myotonic dystrophy is a significant cause of idiopatic polyhydramnios. Neonatal form of dystrophia myotonica. A neonatal case of congenital myotonic dystrophy.

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Barber aI. J Med Genet, 29pp. A report of two cases and a review of the literature. Se continuar a navegar, consideramos que aceita o seu uso. Correlation of the myotonic syndrome in dystrophic and congenital myotonia.

J Gynecol Obstet Biol Reprod, 24pp. Arch Dis Child, 67pp. A case report and recent literature.

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Principios de medicina interna, pp. Prenat Diagn, 13pp. The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, intrauterine death, difficulties in expulsion, intra and post partum haemorrhage. Acta Obstet Gynecol Scand, 65pp. Disease picture of myotonic muscular vistrofia in patients with large CTG triplet expansion. Electroencephalogr Clin Neurophysiol, 61pp. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis.

A study of ten cases. Semin Pediatr Neurol, 3pp.

Lancet, 1pp. Computations for prenatal prediction of myotonic dystrophy. J Pediatr Ophthalmol Strabismus, 31pp. Clin Genet, 23pp. Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

Van de Biezenbos, J. Arch Dis Child, 54pp.

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Plasencia aO. Nervenarzt, 70pp. Eguiluz aW. Prenat Diagn, 11pp. Congenital myotonic dystrophy in Britain. The congenital form has a poor prognosis, and is more difficult to diagnose. Congenital myotonic dystrophy [abstract]. J Distfofia Hum, 28pp. The movements of fetuses with congenital myotonic dystrophy in utero.

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

Minerva Pediatr, 53pp. Clinical expression of myotonic dystrophy: Neurology, 42pp. Ann Neurol, 35pp. J Perinat Med, 24pp. Myotonic dystrophy is an unusual entity, which is rarely xteinert with pregnancy due to the fact that those people who are affected usually present with genital atrophy and hypogonadism. Acta Biomed Ateneo Parmense, 71pp. Nondystrophinopathic muscular dystrophies including myotonic dystrophy.

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