title: Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
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.
authors.affiliation: Metabolic Unit, Department of Pediatrics, University of Florence, Florence, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Cavicchi
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: E
authors.initials: E
authors.lastname: Pasquini
authors.forename: G M
authors.initials: GM
authors.lastname: Poggi
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: R
authors.initials: R
authors.lastname: Parini
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: A
authors.initials: A
authors.lastname: Morrone
mesh_terms: D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003062:Codon; D004252:DNA Mutational Analysis / Q000379:methods*; D018076:DNA, Complementary / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008239:Lysine / Q000737:chemistry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D003062:Codon; D018076:DNA, Complementary; D008765:Methylmalonyl-CoA Mutase; D008239:Lysine