DISTROFIA MIOTONICA 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. PDF | La distrofia miotónica de Steinert (DM1) es una enfermedad hereditaria, caracterizada por desórdenes multisistémicos asociados a disfunción muscular.

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Am J Obstet Gynecol, 82pp.

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Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion. Ulster Med J, 63pp. Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

Antenatal and preoperative genetic and clinical assessment in myotonic dystrophy. Myotonic dystrophy and pregnancy. Ultrasound Obstet Gynecol, 20pp. Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy.

J Med Genet, 29pp. Electroencephalogr Clin Neurophysiol, 61pp. Ultras Obstet Gyneacol [en prensa].

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

stwinert Nondystrophinopathic muscular dystrophies including myotonic dystrophy. Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death. Neurologia, 26pp. Lancet, 1pp.

Ned Tijdschr Geneeskd,pp. Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis. Clin Genet, 23steinet. Obstet Gynecol, 42pp. Diagnostic problems in congenital myotonic dystrophy.

Obstetric complications as the first sign of myotonic dystrophy. You can change the settings or obtain more information by clicking here. Arch Dis Child, 67pp. Arch Dis Child, 50pp. First-trimester prediction in fetus at risk for myotonic dystrophy. Anal abnormalities in childhood myotonic dystrophy: Tidsskr Nor Laegeforen,pp.

Toko-Gin Pract, 61pp.

Dustrofia Pediatr, 53pp. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis. Recurrent hydramnios in association with myotonia dystrophica. The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, intrauterine death, difficulties in expulsion, intra and post partum haemorrhage.

Distrofia Miotonica de Steiner

Congenital myotonic dystrophy [abstract]. Lancet,pp. Prenat Diagn, 13pp. J Reprod Med, 28pp. Computations for prenatal prediction of myotonic dystrophy. Persistent tunica vasculosa lentis as a sign of congenital myotonic dystrophy. Lancet, 2pp.

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Distrofia Miotonica de Steiner | Publish with Glogster!

Obstet Gynecol Surv, 41pp. Identification of minimal expression of myotonic dystrophy using electroretinography. Early electromyographic signs in congenital myotonic dystrophy.

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. A study of ten cases.

Five cases in preterm babies and review of early reports. Neonatal form of dystrophia myotonica. Myotonic dystrophy with no trinucleotide repeat expansion.

Uterine contractions during labor in myotonic muscular dystrophy.