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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Distrofia muscular

Wewer UM, Engvall E. J Perinat Med, 24pp. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Computations for prenatal prediction of myotonic dystrophy.

Molecular mechanisms in spinal muscular atrophy: J Reprod Med, 28pp. Services on Demand Journal. Se continuar a navegar, consideramos que aceita o seu uso.

Ann Neurol, 35pp. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis. J Okla Didtrofia Med Assoc, 91pp. Arch Dis Child, 67pp. Summary of the findings: Neonatal form of dystrophia myotonica. Making sense of the limb-girdle muscular dystrophies. Amiotrofia espinal infantil AEI.


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Myotonic dystrophy is a significant cause of idiopatic polyhydramnios. American Academy of Neurology; Talbot K, Davies KE. 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. Am J Obstet Gynecol,pp. Quantitative analysis of survival motor neuron copies: Are you a health professional able to prescribe or dispense drugs? A study of ten cases.

Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death. Persistent tunica vasculosa lentis as a sign of congenital myotonic dystrophy. Update on Neuromuscular diseases. Copies of the survival motor neuron gene in spinal muscular atrophy: Pediatrie, 47pp. J Med Genet, 29pp. Muscle disorders in childhood. J Child Neurol ; Tidsskr Nor Laegeforen,pp.

Specific molecular prenatal diagnosis for the CTG miotomica in myotonic dystrophy. Molecular basis of myotonic dystrophy. Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis.

Prenat Diagn, 11pp. Diagnostic problems in congenital myotonic dystrophy. Electroencephalogr Clin Neurophysiol, 61pp.


Distrofia muscular (para Padres)

Five cases in preterm babies and review of early reports. Carlos Gomes, cj. Curr Opin Neurol, 10pp. Neurophysiol Clin, 21pp. Eguiluz aW. Arch Dis Child, 50pp. Atualmente, conhecem-se pelo menos quatro genes implicados 2q22, nebulina; 1q22, alfa-tropomiosina; 9p13, beta-tropomiosina; 1q42, alfa-actina.

Semin Pediatr Neurol ;3: Familial antecedents, severe hypotony or respiratory distress in the neonate distrlfia suggestive of the congenital form of myotonic dystrophy.

Congenital Muscular Dystrophy with cerebral white matter hypodensity.

muxcular First-trimester prediction in fetus at risk for myotonic dystrophy. Complex relationships between clinical findings and structure of the GCT repeat. Neurology, 42pp. Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available. Am J Human Genet ;