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Carnitine was measured in the first liver biopsy sample taken from Angela, as well as in a muscle biopsy sample

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Do you think Lets look at L-carnitine Necessary for heart, brain and muscle function, L-carnitine is naturally produced by your animals body

Genotypephenotype correlation studies demonstrate that early truncating mutations in MECP2 (R168X, R255X, and R270X) and large INDELs cause the most severe phenotype, whereas most missense mutations (R133C and R306C) and late truncating mutations (R294X) are the mildest (Neul et al