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Article

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Discovery medicine - 1 Feb 2012

Schrier Samantha A, Wong Lee-Jun, Place Emily, Ji Jack Q, Pierce Eric A, Golden Jeffrey, Santi Mariarita, Anninger William, Falk Marni J

Abstract excerpt

Progressive multisystem disease should invoke consideration of potential mitochondrial etiologies. Mitochondrial disease can affect any organ system at any time, particularly involving neurologic, cardiac, muscular, gastroenterologic, and/or ophthalmologic manifestations. We report here a 19-year-old Caucasian man who was followed since birth in multiple pediatric subspecialty clinics for myelomeningocele...

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PMID: 22369973
PMCID: PMC3618896

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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