DISTROFIA MUSCULAR MIOTONICA PDF

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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Obstet Gynecol Surv, 41pp. A study of ten cases. Ultras Obstet Gyneacol [en prensa]. Myotonic dystrophy with no trinucleotide kuscular expansion. Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Myotonic dystrophy and pregnancy.

Diagnostic problems in congenital myotonic dystrophy. The congenital form has a poor prognosis, and is more difficult to diagnose.

Neuromuscular disorders

Antenatal and preoperative genetic and clinical assessment in myotonic dystrophy. 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. Genetic risks for children of women with myotonic dystrophy. Prenatal diagnosis of myotonic dystrophy by direct mutation analysis.

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Neonatal form of dystrophia myotonica. A case report and recent literature. Toko-Gin Pract, 61pp. J Reprod Med, 28pp. Molecular basis of miotonic dystrophy: Amiotrofia espinal infantil AEI.

Identification and characterization of a spinal muscular atrophy-determining gene. Acta Biomed Ateneo Parmense, 71pp.

Early electromyographic signs in congenital myotonic dystrophy. Las Palmas de Gran Canaria. Description of a case presenting with dysphagia. Tidsskr Nor Laegeforen,pp. Continuing navigation will be considered as acceptance of this use. Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available.

Obstetric complications as the first sign of myotonic dystrophy.

mlotonica Masui, 51pp. Congenital myotonic dystrophy [abstract]. Congenital Muscular Dystrophy with merosin deficiency. Am J Hum Genet ; Ulster Med J, 63pp. Myotonic dystrophy and pregnancy: Eur J Pediatr,pp. Familial antecedents, severe hypotony or respiratory distress in the neonate are suggestive of the congenital form of myotonic dystrophy. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis.

Identification of minimal expression of myotonic dystrophy using electroretinography. A neonatal case of distrofiia myotonic dystrophy. All the contents of this journal, dietrofia where otherwise noted, is licensed under a Creative Commons Attribution License. Arch Dis Child ; American Academy of Neurology; Update on Neuromuscular diseases. Plasencia aO. J Gynecol Obstet Biol Reprod, 24pp. Talbot K, Davies KE. Eguiluz aW. Five cases in preterm babies and review of early reports.

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Arch Dis Child, 50pp. The movements of fetuses with congenital myotonic dystrophy in utero.

Pediatr Neurol, 12pp. Its association with pregnancy can lead to different problems. Spinal muscular atrophy – clinical and genetic correlations.

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Anticipation in myotonic dystrophy. Correlation of the myotonic syndrome in dystrophic and congenital myotonia. Barber aI. Congenital Muscular Dystrophy with cerebral white matter hypodensity. Recurrent hydramnios in association with myotonia dystrophica.