Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.

Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G. Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. Muscle Nerve. 2002 Apr; 25(4):513-9.

View in: PubMed