This mutation has been previously reported in two unrelated kindred presenting two distinct syndromes (fatal mitochondrial encephalomyopathy and hypertrophic cardiomyopathy respectively). The description of a third syndrome associated with a same TSFM mutation gives support to the broad clinical and genetic heterogeneity of mitochondrial translation deficiencies in human.
It suggests that mitochondrial translation deficiency represents a growing cause of hepatic failure of mitochondrial origin in infants.
2011-12-16
Eng.
Journal of Hepatology
Department of Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sèvres, 75015 Paris, France.
J Hepatol. 2012 Jan;56(1):294-7
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