Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A

Scala M, Brigati G, Fiorillo C, Nesti C, Rubegni A, Pedemonte M, Bruno C, Severino M, Derchi M, Minetti C, Santorelli FM (2019) Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings. Neurogenetics. 20:165–172. https://doi.org/10.1007/s10048-019-00582-5 Finsterer J (2009) Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 30:659–681 Norrish G, Ding T, Field E, McLeod K, Ilina M, Stuart G, Bhole V, Uzun O, Brown E, Daubeney PEF, Lota A, Linter K, Mathur S, Bharucha T, Kok KL, Adwani S, Jones CB, Reinhardt Z, Omar RZ, Kaski JP (2019) A validation study of the European Society of Cardiology guidelines for risk stratification of sudden cardiac death in childhood hypertrophic cardiomyopathy. Europace. https://doi.org/10.1093/europace/euz118 Emperador S, Bayona-Bafaluy MP, Fernández-Marmiesse A, Pineda M, Felgueroso B, López-Gallardo E, Artuch R, Roca I, Ruiz-Pesini E, Couce ML, Montoya J (2016) Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. Eur J Hum Genet 25:153–156 Ahola S, Isohanni P, Euro L, Brilhante V, Palotie A, Pihko H, Lönnqvist T, Lehtonen T, Laine J, Tyynismaa H, Suomalainen A (2014) Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Neurology 83:743–751 Traschütz A, Hayer SN, Bender B, Schöls L, Biskup S, Synofzik M (2019) TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids. Parkinsonism Relat Disord 60:176–178 Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK (2012) Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 4:118ra10. https://doi.org/10.1126/scitranslmed.3003310