Emery dreifuss muscular dystrophy: a clinico-pathological study.

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Article

Emery dreifuss muscular dystrophy: a clinico-pathological study.

Neurology India - 1 Jun 2006

Gayathri N, Taly A B, Sinha S, Suresh T G, Gorai D

Abstract excerpt

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.

Topics

Adolescent
Adult
Humans
Male
Membrane Proteins
Muscle, Skeletal
Muscular Dystrophy, Emery-Dreifuss
Nuclear Proteins
Phenotype
Thymopoietins

Source

Open in PubMed

Identifiers

PMID: 16804269

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