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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Eur J Pediatr,pp. Minimal somatic instability of CTG repeat in congenital myotonic dystrophy. Las Palmas de Gran Canaria.

Distrofia Miotonica de Steiner | Publish with Glogster!

Clin Invest Ginecol Obstet, 25pp. Nondystrophinopathic muscular dystrophies including myotonic dystrophy. Clinical expression of myotonic dystrophy: Toko-Gin Pract, 61pp.

Neurophysiol Clin, 21pp. Molecular basis of miotonic dystrophy: Myotonic dystrophy and pregnancy: First-trimester prediction in fetus at risk for myotonic dystrophy. Recurrent hydramnios in association with myotonia dystrophica.

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Description of a case presenting with dysphagia. Arch Dis Child, 50pp. Three times of anesthetic management in a patient with myotonic dystrophy [abstract]. The congenital form has a poor prognosis, and is more difficult to diagnose. Familial antecedents, steinfrt hypotony or respiratory distress in the neonate are suggestive of the congenital form of myotonic miotlnica. Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death.

Hospital Universitario Materno-Infantil de Canarias. Pena-shokeir type I syndrome. Dystrophia myotonica and pregnancy [abstract]. J Med Genet, 29pp.

Ultrasound Obstet Gynecol, 20pp. Its association with pregnancy can lead to different problems. A study of ten cases. Ulster Med J, 63pp.

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Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis. Prenat Diagn, 13pp. Barber aI. J Gynecol Obstet Biol Reprod, 24pp. Obstet Gynecol, 45pp.

Ultras Obstet Gyneacol [en prensa]. Myotonic dystrophy is an unusual entity, miootnica is rarely associated with pregnancy due to the fact that those people who are affected usually present with genital atrophy and hypogonadism. Anal abnormalities in childhood myotonic dystrophy: Prenat Diagn, 11pp. Obstet Gynecol, 42pp.

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