Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency
C Cavicchi1, M A Donati, E Pasquini
1Metabolic Unit, Department of Pediatrics, University of Florence, Florence, Italy.
Journal of Inherited Metabolic Disease
|January 26, 2006
Abstract:
We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X, p.Glu 451X), one splicing defect (c.2125-1G >A), one small deletion (c.1758-1759delA) and nine previously described mutations identified in 10 unrelated Italian patients affected by mut MMA.
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