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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Fig. 1

a Pedigree of isolated methylmalonic acidemia with MMAA variants. The arrow denotes the proband, and affected family members are indicated by filled black symbols. b Multiple sequence alignment by use of ClustalX. The presence of a leucine residue at position 122 (highlighted with a box) was highly conserved across different species. c Validation of the MMAA gene mutation by Sanger sequencing. The proband and her affected brother are homozygous for c.365T>C, and their parents are heterozygotes (the variant is indicated by a black arrow)

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BMC Medical Genetics

ISSN: 1471-2350

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