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Pedigree trees from 11 studied families affected by ACP. Squares indicate males and circles females. Index cases are indicated with an arrow. Filled symbols indicate affected members, half-filled black symbols denote unaffected carriers, and barred symbols indicate deceased subjects. “?”, indicates individuals that were not possible to test because of refusal of testing or non-locatable person. Mutations are named according to the Human Genome Variation Sequence (HGVS) nomenclatures.
