DISTROFIA MUSCULAR MIOTONICA PDF

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La distrofia miotónica es una entidad infrecuente, raramente asociada a la Disease picture of myotonic muscular dystrophy in patients with large CTG triplet . Se describe el caso de un varón de 42 años de edad con diagnóstico de distrofia muscular miotónica e historia de disminución de la fuerza muscular.

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Congenital myotonic dystrophy [abstract].

Arch Dis Child, 54pp. Pena-shokeir type I syndrome.

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Familial antecedents, severe hypotony or respiratory distress in the neonate are suggestive of the congenital form of myotonic dystrophy. Curr Opin Neurol, 10pp. Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death. Its association with pregnancy can lead to different problems.

How to cite this article. New perspectives in pediatric neuromuscular disorders. Services on Demand Journal. Semin Pediatr Neurol ;3: Congenital Muscular Dystrophy with cerebral white matter hypodensity. Neurologia, 26pp. Amiotrofia espinal infantil AEI. Prenat Diagn, 13pp. Semin Pediatr Neurol, 3pp. In addition, it is based on Medline and on the review of the most recent numbers of Neuromuscular Disorders, the official journal of the World Muscle Society. Molecular mechanisms in spinal muscular atrophy: J Reprod Med, 28pp.

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Distrofia muscular

Clin Genet, 23pp. Hospital Universitario Materno-Infantil de Canarias. Molecular basis of myotonic dystrophy. Early electromyographic signs in congenital myotonic dystrophy.

Persistent tunica vasculosa lentis as a sign of congenital myotonic dystrophy. A neonatal case of congenital myotonic dystrophy. Summary of the findings: Poulton J, Turnbull DM.

The congenital form has a poor prognosis, and is more difficult to diagnose. Principios de medicina interna, pp. C R Acad Sci Paris ; Clinical expression of myotonic dystrophy: Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available.

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J Perinat Med, 24pp. Ultras Obstet Gyneacol [en prensa]. Eur J Pediatr,pp. Spinal muscular atrophy – clinical and genetic correlations. Update on Neuromuscular diseases.

Neuromuscular disorders

Lancet,pp. Acta Biomed Ateneo Parmense, 71pp. Dystrophia myotonica and pregnancy [abstract].

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