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Article

An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant.

American journal of medical genetics. Part A - 1 Feb 2025

Şenol Hüseyin Bahadır, Soydemir Didem, Polat Ayşe İpek, Aydın Adem, Hız Ayşe Semra, Yiş Uluç

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is characterized by vision loss due to the degeneration of retinal ganglion cells. LHON-Plus refers to LHON with additional extraocular findings. Neurological conditions observed in LHON-Plus include seizures, encephalopathy, movement disorders, neuropathy, and myopathy. Herein, we present a case with atypical LHON-Plus caused by a novel DNAJC30 disease-causing gene...

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Identifiers

PMID: 39404442
DOI: 10.1002/ajmg.a.63902

Genes

DNAJC30

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