Emery dreifuss muscular dystrophy: a clinico-pathological study.
Neurol India
;
2006 Jun; 54(2): 197-9
Article
in English
| IMSEAR
| ID: sea-120140
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Phenotype
/
Thymopoietins
/
Humans
/
Male
/
Nuclear Proteins
/
Adolescent
/
Muscle, Skeletal
/
Adult
/
Muscular Dystrophy, Emery-Dreifuss
/
Membrane Proteins
Language:
English
Journal:
Neurol India
Year:
2006
Type:
Article
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