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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]

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We could hypothesize that familial cases may have an intrinsic cutaneous reactivity, deriving from some genetic characteristics, such as MC1R or DNA repair capacity ( a higher number of naevi , great naevi in particular or atypical naevi, especially if on the trunk or the lower limb ( CDKN2A mutation or polymorphisms on chromosome 9 and 22 ( a more frequent association of melanoma on naevus

[DOI] [PMC free article] [PubMed] [Google Scholar] 48.Koga S., Nakano M., Tero-Kubota S

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