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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-04-2021
Symbol LGMDR27
Location 14q32.33
Name muscular dystrophy, limb-girdle, autosomal recessive 27
Corresponding gene JAG2
Main clinical features
  • infantile and later onset forms, high frequency of respiratory complications and CK levels that range from normal to mildly elevated
  • limb weakness was present in all affected individuals, and there was lower extremity and proximal dominance
  • axial weakness was a prominent feature, and neck flexion weakness was present in almost all affected individuals
  • joint contractures, muscle atrophy or muscle hypertrophy
  • nerve conduction studies were normal
  • on muscle biopsy : a range of myopathic findings, including prominent variation in myofiber size, increased internal nuclei, myofiber splitting, myofiber necrosis and phagocytosis, mild to marked endomysial fibrosis, and various degrees of fatty transformation
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease