Surprisingly, we noticed that the c.960+5G→A mutation, which conserves 92% of the native protein, was associated with patients severely affected by neurological symptoms, hearing loss and myopathy (C-II-2, C-II3), whereas the c.47+1G>A mutation that caused a dramatic truncation of the ABHD5 protein (p.S17X), was associated with severe steatohepatitis but a relatively mild phenotype concerning the other clinical CDS features (patient: A-II-1). The gene discussed is ABHD5; the disease is myopathy.