Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the +AEAAQA-iLMNA+AEA- Gene

Described here is the phenotypical expression of a novel +AEAAQA-iLMNA+AEA- mutation c.1157 G+AD4-T in a Czech patient with an early-onset form of Emery-Dreifuss muscular dystrophy. The mutation predicts aberrant splicing. Now 21 years old, the patient has had slowly progressing muscle dystrophy sin...

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Bibliographic Details
Published in:Pediatric neurology 2009-08, Vol.41 (2), p.127-130
Main Authors: Lassuthova, Petra, Barankova, Lucia, Kraus, Josef, Marikova, Tat+IBk-ana, Seeman, Pavel
Format: Article
Language:English
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Summary:Described here is the phenotypical expression of a novel +AEAAQA-iLMNA+AEA- mutation c.1157 G+AD4-T in a Czech patient with an early-onset form of Emery-Dreifuss muscular dystrophy. The mutation predicts aberrant splicing. Now 21 years old, the patient has had slowly progressing muscle dystrophy since the age of one and early contractures of elbows. He is the only family member affected. Even though the dystrophy typically affects the heart as well, in the present case these signs are not yet expressed.
ISSN:0887-8994
DOI:10.1016/j.pediatrneurol.2009.03.009