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Article

Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).

Journal of the neurological sciences - 15 Nov 2016

Langwinska-Wosko Ewa, Skowronska Marta, Kmiec Tomasz, Czlonkowska Anna

Abstract excerpt

BACKGROUND: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an neurodegeneration with brain iron accumulation (NBIA) subtype with mutation of C19orf12. Optic atrophy is one of the core symptoms in almost all MPAN cases, but the detailed ophthalmologic features of MPAN patients have not yet been described. METHODS: All consecutive symptomatic, gene proven MPAN patients underwent a detailed...

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Identifiers

PMID: 27772766
DOI: 10.1016/j.jns.2016.09.046

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ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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