Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2P (LGMD2P)?

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

LGMD2P (LGMDR16 DAG1; 3p21)

Rare families have been reported with delayed walking, proximal more than distal weakness with slow progression, calf or thigh hypertrophy, occasional Achilles joint contracture, greatly elevated CK, and moderate-to-severe mental retardation. [36]

Brain MRI is normal

α -dystroglycan staining is reduced on muscle immunohistochemistry


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