Gene List:
ANO5, B3GALNT2, B4GAT1, CAPN3, CAV3, CHKB, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GMPPB, ISPD, ITGA7, LAMA2, LARGE1, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TRAPPC11, TRIM32, TTN
References:
Gamez et al. Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. Neurology. 2001;56:450–4.
Takeshima et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet. 2010;55:379–88.
Moat et al. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet. 2013;21(10):1049–53.
Bird TD. Myotonic Dystrophy Type 1. GeneReviews®. Pagon RA, Adam MP, Ardinger HH, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2017.
Sarparanta et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet. 2012;44:450–5.