Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2X (LGMD2X)?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

LGMD2X - Popeye domain–containing 1 (POPDC1); blood vessel epicardial substance (BVES) mutation (excluded from new classification)

​One multigenerational family with 3 affected members is reported. [44]

Onset of slowly progressive proximal weakness in mid-adulthood.

Syncope due to AV-block in all family members may manifest before weakness.


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