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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, Paquis-Flucklinger V. Rouzier C, et al. Among authors: caruba c. J Med Genet. 2010 Oct;47(10):670-6. doi: 10.1136/jmg.2009.073445. Epub 2010 Aug 7. J Med Genet. 2010. PMID: 20693550 Free article.
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].
Pierron S, Giudicelli H, Moreigne M, Khalfi A, Touati G, Caruba C, Rolland MO, Acquaviva C. Pierron S, et al. Among authors: caruba c. Arch Pediatr. 2010 Jan;17(1):10-3. doi: 10.1016/j.arcped.2009.09.022. Epub 2009 Nov 22. Arch Pediatr. 2010. PMID: 19932602 French.
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