Limb Girdle Muscular Dystrophies

Jacob Bockhorst, Matthew Wicklund

Research output: Contribution to journalReview articlepeer-review

9 Scopus citations


The limb girdle muscular dystrophies (LGMDs) are genetic muscle diseases with primary skeletal muscle involvement in persons with the ability to walk independently at some point in the disease course. They usually have increased creatine kinase levels along with patterns of fatty and fibrous deposition on muscle imaging and/or dystrophic features on muscle biopsy. Distinctive clinical features provide valuable diagnostic clues to the diagnosis and sometimes treatment of these disorders. The advent of gene and cell-based therapies; gene replacement, editing, and modulation; along with stem cell and small molecule therapies may significantly ameliorate clinical severity in the LGMDs.

Original languageEnglish (US)
Pages (from-to)493-504
Number of pages12
JournalNeurologic Clinics
Issue number3
StatePublished - Aug 2020
Externally publishedYes


  • Anoctamin 5
  • Calpain 3
  • Caveolin 3
  • Lamin A/C
  • Limb girdle muscular dystrophies

ASJC Scopus subject areas

  • Clinical Neurology


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