Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G. Riley, Sandra T. Cooper|European Journal of Human Genetics|2019Cited by 25
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Xun Xu, Manoj P. Menezes et al.|Neuromuscular Disorders|2014Cited by 18