Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy. The symptom of muscle weakness usually begins around the age of four in boys . Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly). Molecular diagnosis of congenital muscular dystrophy, Fukuyama type (FKTN gene): Unidade de Genética Molecular – Departamento de Genética; Centro de .
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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.
Summary of the findings: Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available. Amiotrofia espinal infantil AEI. Atualmente, conhecem-se pelo menos quatro genes implicados 2q22, nebulina; 1q22, alfa-tropomiosina; 9p13, beta-tropomiosina; 1q42, alfa-actina.
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Duchenne muscular dystrophy
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Orphanet: Distrofia muscular congenita tipo Fukuyama
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Services on Demand Journal. Carlos Gomes, cj. How to cite this article.