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Article

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.

Ophthalmology - 1 Oct 2016

Jean-Charles Albert, Merle Harold, Audo Isabelle, Desoudin Catherine, Bocquet Béatrice, Baudoin Corinne, Sidibe Moro, Mauget-Faÿsse Martine, Wolff Benjamin, Fichard Agnès, Lenaers Guy, Sahel José-Alain, Gaudric Alain, Cohen Salomon Yves, Hamel Christian P, Meunier Isabelle

Abstract excerpt

PURPOSE: To reappraise the autosomal dominant Martinique crinkled retinal pigment epitheliopathy (MCRPE) in light of the knowledge of its associated mutated gene mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), an actor in the p38 mitogen-activated protein kinase pathway. DESIGN: Clinical and molecular study. PARTICIPANTS: A total of 45 patients from 3 generations belonging to a family...

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Identifiers

PMID: 27474146
DOI: 10.1016/j.ophtha.2016.06.028

Genes

MAPKAPK3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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