| 1 | LGMD2Q, PLEC |
| Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. | |
| Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P. | |
| Am J Hum Genet 87(6):834-41. Epub 2010 Nov 25.PMID: 21109228 2010 | |