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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-01-2016
Symbol CMS10
Location 4p16.3
Name congenital myasthenic syndrome, 10
Other name(s)
  • myasthenic myopathy, formely
  • Corresponding gene DOK7
    Other symbol(s) LGM,
    Main clinical features
  • onset in early childhood, limb-girdle pattern of muscle weakness, with at biopsy abnormally small neuromuscular junction
  • spectrum varied from mild static limb-girdle weakness to severe generalized progressive disease
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    frameshift     mostly mutations in exon 7