Previously, MPV17 mutations have been reported in 32 patients with the hepatocerebral form of MDS in which the most common clinical manifestations included early progressive liver failure, hypoglycaemia and raised plasma lactate concentrations.4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15 Some of these patients manifested with neuromuscular abnormalities including hypotonia, nystagmus, encephalopathy, developmental delay/mental retardation, microcephaly, seizures, myoclonus, myopathy, ataxia and/or peripheral neuropathy (Navajo neurohepatopathy). This evidence concerns the gene MPV17 and myopathy.