Emery-Dreifuss muscular dystrophy.

L, De Smet

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Article . 2004

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Emery-Dreifuss muscular dystrophy.

descriptionPublicationkeyboard_double_arrow_right Article 20 Jul 2004 English Journal:Genetic counseling (Geneva, Switzerland), volume 15 (issn: 1015-8146,

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Authors: L, De Smet;

pmid: 15083706

Emery-Dreifuss muscular dystrophy.

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Abstract

The muscular dystrophies are a group of disorders, genetically determined, with progressive degeneration of muscle(s), without central nervous nor peripheral nerve abnormalities. The Emery-Dreifuss muscular dystrophy is one of these. We report a case with typical features.

Keywords

Adult, Male, Chromosomes, Human, X, Electrocardiography, Humans, Point Mutation, Atrophy, Lamin Type A, Magnetic Resonance Imaging, Muscular Dystrophy, Emery-Dreifuss

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