What is the pathophysiology of congenital myopathies?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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The gene affected in each disease predicts the presentation of disease features. However, amongst each gene there are variations in presentation based upon the specific change.  Occasionally, these result in phenotypic overlap between genes as well as genes causing congenital myopathy to occasionally have phenotypes more consistent with congenital muscular dystrophies, limb-girdle muscular dystrophies, or even possible neuropathic or neuromuscular junction diseases. 

Additionally, each gene may have other tissue expression, which can result in non-muscle symptoms.

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