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Article

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Molecular genetics and metabolism - 1 Aug 2011

Schaaf Christian P, Blazo Maria, Lewis Richard Alan, Tonini Ross E, Takei Hidehiro, Wang Jing, Wong Lee-Jun, Scaglia Fernando

Abstract excerpt

INTRODUCTION: Pathogenic mutations in the OPA1 gene are the most common identifiable cause of autosomal dominant optic atrophy (DOA), which is characterized by selective retinal ganglion cell loss, a distinctive pattern of temporal pallor of the optic nerve and a typical color vision deficit, with variable effects on visual acuity. Haploinsufficiency has been suggested as the major pathogenic mechanism for DOA....

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Source

Identifiers

PMID: 21636302
DOI: 10.1016/j.ymgme.2011.04.018

Genes

OPA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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