Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Vedrenne, Vanessa
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. [electronic resource] - American journal of human genetics Nov 2012 - 912-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2012.09.001 doi
Adolescent
Brain--pathology
Child, Preschool
DNA, Mitochondrial--genetics
Exons
Exoribonucleases--genetics
Female
Hep G2 Cells
Humans
Magnetic Resonance Imaging
Male
Mitochondrial Diseases--diagnosis
Mutation
RNA Interference
RNA Transport--genetics
RNA, Ribosomal--metabolism
RNA, Transfer--metabolism
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. [electronic resource] - American journal of human genetics Nov 2012 - 912-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2012.09.001 doi
Adolescent
Brain--pathology
Child, Preschool
DNA, Mitochondrial--genetics
Exons
Exoribonucleases--genetics
Female
Hep G2 Cells
Humans
Magnetic Resonance Imaging
Male
Mitochondrial Diseases--diagnosis
Mutation
RNA Interference
RNA Transport--genetics
RNA, Ribosomal--metabolism
RNA, Transfer--metabolism