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GENATLAS PHENOTYPE
last update : 23-12-2014
Symbol EMD5
Location 14q23.2
Name Emery-Dreifuss muscular dystrophy 5
Corresponding gene SYNE2
Other symbol(s) EDMD5
Main clinical features
  • proximal upper limb weakness and winged scapulae in infancy
  • serum creatine kinase was increased and later minor respiratory insufficiency; skeletal muscle biopsy at age showed dystrophic changes; no apparent cardiac involvement
  • later possible dilated cardiomyopathy
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Remark(s)