AI Article Synopsis
- A novel mutation in the LMNA gene (c.1157 G>T) has been identified in a Czech patient with early-onset Emery-Dreifuss muscular dystrophy, leading to abnormal splicing.
- The patient, now 21, began showing signs of slowly progressing muscle dystrophy at the age of one, along with early contractures of the elbows.
- He is the only affected family member, and although the dystrophy usually impacts the heart, there are currently no cardiac symptoms present in his case.
Article Abstract
Described here is the phenotypical expression of a novel LMNA mutation c.1157 G>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.
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| http://dx.doi.org/10.1016/j.pediatrneurol.2009.03.009 | DOI Listing |
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