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Ontology Term : Emery-Dreifuss muscular dystrophy UniProtKeyword

description  Protein which, if defective, causes Emery-Dreifuss muscular dystrophy, a heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by slowly progressive muscle weakness, contracture of the elbows, Achilles tendon and posterior cervical muscles, and cardiac features
  • synonyms:
  • Scapuloperoneal muscular dystrophy
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