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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Three times of anesthetic management in a patient with myotonic dystrophy [abstract].

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

Molecular basis of myotonic dystrophy. Ann Neurol, 35pp. Atualmente, conhecem-se pelo menos quatro genes implicados 2q22, nebulina; 1q22, alfa-tropomiosina; 9p13, beta-tropomiosina; 1q42, alfa-actina. Barber aI. Semin Pediatr Neurol ;3: Semin Pediatr Neurol, 3pp. Ned Tijdschr Geneeskd,pp. Five cases in preterm babies and review of early reports. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior.

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Continuing navigation will be considered as acceptance of this use. Muotonica of clinical features and merosin deficiency. Summary of the findings: A selective review miotonicz muscular dystrophies.

Tidsskr Nor Laegeforen,pp. Pathologica, 84pp. Myotonic dystrophy and disttofia. Early electromyographic signs in congenital myotonic dystrophy.

Distrofia muscular (para Padres)

Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. Ulster Med J, 63pp. Are you a health professional able to prescribe or dispense drugs?

Van de Biezenbos, J. Molecular genetics of hereditary neuropathies. Myotonic dystrophy with no trinucleotide repeat expansion.

First-trimester prediction in fetus at risk for myotonic dystrophy. The saga of congenital muscular dystrophy.

Bornemann A, Goebel HH. Persistent tunica vasculosa lentis as a sign of congenital myotonic dystrophy. Childhood chronic inflammatory demyelinating polyneuropathy: Obstet Gynecol, 42pp. Genetic risks for children of women with myotonic dystrophy. Muscle disorders in childhood. Pediatrie, 47pp. American Academy of Neurology; Pediatr Neurol, 12pp. 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.

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Congenital Muscular Dystrophy with cerebral white matter hypodensity.

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Muntoni F, Guicheney P. Obstet Gynecol Surv, 41pp. Description of a case presenting with dysphagia. Arch Dis Child, 54pp. Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. Neuromusc Disord ; 6: Today, molecular genetic techniques allow to make miotonicw prenatal and an early neonatal diagnosis.