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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A case report and recent literature. Am J Obstet Gynecol,pp. Uterine contractions during labor in myotonic muscular dystrophy.

Congenital myotonic dystrophy [abstract]. Ultrasound Obstet Gynecol, 20pp.

A study of ten cases. Obstetric complications as the first sign of myotonic dystrophy.

Distrofia muscular (para Padres)

The movements of fetuses with congenital myotonic dystrophy in utero. Ulster Med J, 63pp. Correlation of clinical features and merosin deficiency. Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: Molecular basis of genetic heterogeneity: Neurology, 42pp.


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Identification of minimal expression of myotonic dystrophy using electroretinography. Quantitative analysis of survival motor neuron copies: Talbot K, Davies KE. First-trimester prediction in fetus at risk for myotonic dystrophy. Clin Genet, 23pp.

J Pediatr Ophthalmol Strabismus, 31pp. Barber aI. Molecular basis of miotonic dystrophy: Bornemann A, Goebel HH.

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

Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Description of a case presenting with dysphagia. Genetic risks distrifia children of women with myotonic dystrophy. Fetal akinesia deformation sequence.

Distrofia muscular

The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, sistrofia death, difficulties in expulsion, intra and post partum haemorrhage. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Tidsskr Nor Laegeforen,pp. Diagnostic problems in congenital myotonic dystrophy. Myotonic dystrophy with no trinucleotide repeat expansion. DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis. Summary of the findings: Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion. Van de Biezenbos, J. Neurophysiol Clin, 21pp. Am J Human Genet ; A report of two cases and a review of the literature. Arch Dis Child, 67pp.


Curr Opin Neurol ;