Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy

Campos, Y.; García, A.; López, A.; Jiménez, S.; Rubio, J.C.; Del Hoyo, P.; Bustos, F.; Martín, M.A.; Cabello, A.; Ricoy, J.R.; Arenas, J.

doi:10.1002/mus.10012

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Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy

Shared by NobleBlocks on Jan 28, 2002 • 12:00 AM UTC

Authors:

Y. Campos

A. García

A. López

Abstract

Abstract We report a patient with progressive external ophthalmoplegia (PEO), exercise intolerance, and deafness after aminoglycoside exposure, harboring two pathogenic mutations in her mtDNA: an A1555G in the 12S rRNA gene and a G4309A in the tRNA Ile gene. Muscle histochemistry showed abundant rag...

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