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The gene responsible for the autosomal dominant form of Emery-Dreifuss muscular dystrophy (EMD2) was identified recently.1 This gene encodes for the nuclear envelope proteins lamins A/C (LMNA) and is located on chromosome 1q11-q23. Individuals with EMD2 are clinically indistinguishable from those with X-linked EMD.1 In particular, they share early contractures in the elbows and Achilles tendons, rigidity of the spine, and a scapulo-peroneal distribution of muscle atrophy. The onset of weakness and atrophy generally occurs in the second decade of life, whereas the cardiac involvement occurs at a later stage (third to fourth decade).2 We report a British child in whom onset of weakness with scapulohumeral distribution occurred in the second year of life and mutational analysis of LMNA confirmed a de novo mutation of LMNA, suggesting a diagnosis of EMD2.
Case history.
The current case is a boy born at term by normal delivery with uneventful antenatal, perinatal, and neonatal course. Family history was negative for neuromuscular disorders. His early motor milestones were normal and he began walking at 13 months. At that …
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