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Using genome-wide chromosomal analysis methods, Celestino-Soper and coauthors[43] identified 55 potentially pathogenic copy number variants, among those and in the male samples, a deletion of exon 2 of the TMLHE gene (trimethyllysinehydroxylase epsilon) was found, this gene encodes the first enzyme in the biosynthesis of carnitine which is located in mitochondria

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