Limb-girdle muscular dystrophy in the United States

Steven A. Moore, Christopher J. Shilling, Steven Westra, Cheryl Wall, Matthew P. Wicklund, Catherine Stolle, Charlotte A. Brown, Daniel E. Michele, Federica Piccolo, Thomas L. Winder, Aaron Stence, Rita Barresi, Nick King, Wendy King, Julaine Florence, Kevin P. Campbell, Gerald M. Fenichel, Hansell H. Stedman, John T. Kissel, Robert C. GriggsShree Pandya, Katherine D. Mathews, Alan Pestronk, Carmen Serrano, Daniel Darvish, Jerry R. Mendell

Research output: Contribution to journalArticlepeer-review

134 Scopus citations


Limb-girdle muscular dystrophy (LGMD) has been linked to 15 chromosomal loci, 7 autosomal-dominant (LGMD1A to E) and 10 autosomal-recessive (LGMD2A to J). To determine the distribution of subtypes among patients in the United States, 6 medical centers evaluated patients with a referral diagnosis of LGMD. Muscle biopsies provided histopathology and immunodiagnostic testing, and their protein abnormalities along with clinical parameters directed mutation screening. The diagnosis in 23 patients was a disorder other than LGMD. Of the remaining 289 unrelated patients, 266 had muscle biopsies sufficient for complete microscopic evaluation; 121 also underwent Western blotting. From this combined evaluation, the distribution of immunophenotypes is 12% calpainopathy, 18% dysferlinopathy, 15% sarcoglycanopathy, 15% dystroglycanopathy, and 1.5% caveolinopathy. Genotypes distributed among 2 dominant and 7 recessive subtypes have been determined for 83 patients. This study of a large racially and ethnically diverse population of patients with LGMD indicates that establishing a putative subtype is possible more than half the time using available diagnostic testing. An efficient approach to genotypic diagnosis is muscle biopsy immunophenotyping followed by directed mutational analysis. The most common LGMDs in the United States are calpainopathies, dysferlinopathies, sarcoglycanopathies, and dystroglycanopathies.

Original languageEnglish
Pages (from-to)995-1003
Number of pages9
JournalJournal of neuropathology and experimental neurology
Issue number10
StatePublished - Oct 2006


  • Calpain-3
  • Dysferlin
  • Dystroglycan
  • FKRP
  • Lamin A/C
  • Limb-girdle muscular dystrophy
  • Sarcoglycan


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