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Muscular Dystrophy, Emery-Dreifuss

More information in Books or onNLM PubMed
Definition: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.      Other names X-Linked Scapuloperoneal Syndrome; X Linked Emery Dreifuss Muscular Dystrophy; Scapuloperoneal Syndrome, X Linked; Scapuloperoneal Muscular Dystrophy; Muscular Dystrophy, Emery Dreifuss; Hauptmann Thannhauser Muscular Dystrophy; Emery-Dreifuss Muscular Dystrophy; Emery Dreifuss Syndrome; Emery Dreifuss Muscular Dystrophy, X Linked; Emery Dreifuss Muscular Dystrophy, Autosomal Reces; Emery Dreifuss Muscular Dystrophy 2; Autosomal Recessive Emery Dreifuss Muscular Dystro; Autosomal Dominant Emery Dreifuss Muscular Dystrop; X-Linked Emery-Dreifuss Muscular Dystrophy; Scapuloperoneal Syndrome, X-Linked; Scapuloilioperoneal Atrophy with Cardiopathy; Muscular Dystrophy, Scapuloperoneal; Muscular Dystrophy, Emery-Dreifuss, Autosomal Rece; Muscular Dystrophy, Emery-Dreifuss, Autosomal Domi; Muscular Dystrophy, Emery-Dreifuss Type
 
SubstanceCAS Registry & nameCategoriesSource
Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures  0   *Contracture *Muscular Dystrophy, Emery-Dreifuss.
Scapuloperoneal myopathy  0   *Muscular Dystrophy, Emery-Dreifuss.
Muscular dystrophy, tardive Emery-Dreifuss type, with contractures  0   *Contracture *Muscular Dystrophy, Emery-Dreifuss.
emerin  0   *Membrane Proteins *Nuclear Proteins Muscular Dystrophies Muscular Dystrophy, Emery-Dreifuss. Nat Genet 1994 Dec;8(4):323-7

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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