Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

Jones HF, Bryen SJ, Waddell LB, et al. Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants. Neuromuscular Disord 2019;29:913-919   Abstract A precise genetic diagnosis of a dystrophinopathy has far-reaching implications for affected boys and their families. We present three boys with DMD single nucleotide variants associated with Becker muscular […]