Abstract
Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.
MeSH terms
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Adolescent
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Adult
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Humans
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Male
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Membrane Proteins / deficiency
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Membrane Proteins / genetics
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Muscle, Skeletal / pathology
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Muscular Dystrophy, Emery-Dreifuss / diagnosis
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Muscular Dystrophy, Emery-Dreifuss / genetics
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Muscular Dystrophy, Emery-Dreifuss / pathology*
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Nuclear Proteins
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Phenotype
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Thymopoietins / deficiency
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Thymopoietins / genetics
Substances
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Membrane Proteins
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Nuclear Proteins
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Thymopoietins
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emerin