Sinónimos: Enfermedad de Curshmann-Batten-Steinert, miopatía miotónica protein kinase, proteinquinasa de la distrofia miotónica) en el cromosoma19q PDF | La distrofia miotónica de Steinert (DM1) es una enfermedad hereditaria, caracterizada por desórdenes multisistémicos asociados a disfunción muscular. 26 Sep Download Citation on ResearchGate | Distrofia miotónica de Steinert | The complexity and variability of the manifestations of myotonic.

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Myotonic dystrophy and heart disease: behavior of arrhythmic events and conduction disturbances

Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis. Diagnostic problems in congenital myotonic dystrophy. We use cookies to help provide and enhance our service and tailor content and ads. Lancet,pp.

All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Prenat Diagn, 11pp.


A neonatal case of congenital myotonic dystrophy. J Med Genet, 29pp. The movements of fetuses with congenital myotonic dystrophy in utero. 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. Obstet Gynecol, 45pp. Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy.

Mechanisms of sustained ventricular tachycardia in myotonic dystrophy: Fetal akinesia deformation sequence. Antenatal and preoperative genetic and clinical assessment in myotonic dystrophy. Cardiac involvement in myotonic dystrophy. Services on Demand Journal. Minimal somatic instability of CTG repeat in congenital myotonic dystrophy.

Myotonic dystrophy is a significant cause of idiopatic polyhydramnios. Masui, 51pp.

Grigg LE, Chan W et al. Author links open overlay panel M. Am J Obstet Gynecol, 82pp. Familial antecedents, severe hypotony or respiratory distress in the neonate are suggestive of the congenital form of myotonic dystrophy. Nenhum caso de taquicardia ventricular sustentada foi documentado. Myotonyc Dystrophy, 2 nd edn. Intracardiac conduction defects in dystrophia myotonica. Tidsskr Nor Dr,pp. By continuing you agree to the use of cookies.


Cardiac involvement in myotonic mitonica dystrophy. Nondystrophinopathic muscular dystrophies including myotonic dystrophy. Progressive muscular dystrophy and myotonic disorders. Anticipation in myotonic dystrophy: Arch Dis Child, 50pp.

Identification of minimal expression of myotonic dystrophy using electroretinography. Principios de medicina interna, pp.

Lancet, 2pp. Cell, 68pp. J Am Coll Cardiol ; 6: Congenital myotonic dystrophy [abstract]. A study of ten cases. Ambulatory Electrocardiographic Monitoring Study. Hum Molec Genet ;4: Get Access Get Access.

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