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Oct 16 2021;11(10)doi:10.3390/brainsci11101361

Since the developing nervous system and its critical processes rely heavily on the ATP produced by OXPHOS in the mitochondria, the immature brain is critically vulnerable to faults in energy supply [34, 35]

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Nonsense and frameshift mutations, however, are typically associated with lower carnitine transport and are more prevalent in symptomatic individuals, whereas missense mutations and in-frame deletions (with some residual carnitine transport activity) are more prevalent in asymptomatic mothers identified by newborn screening of their unaffected infants [82]

Dis Colon Rectum 41:11931196 Stratakis CA, Carney JA, Lin J-P, Papanicolaou DA, Karl M, Kastner DL, Pras E, Chrusos GP (1996) Carney complex, a familial multiple neoplasia and lentiginosis syndrome