Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
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Query: UMLS:C0009443 (
cold
)
92,137
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (
OPA3
) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant
OPA3
mutations.
Cold
Spring Harb Mol Case Stud 2017 Jan
PMID:Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo
OPA3
mutation. 2805 May 99
