Defects in nuclear-encoded proteins of themitochondrial translationmachinery cause early-onset and tissue-specific deficiency of one ormore OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreasedmtDNA copy number (40%) were detected in muscle homogenate.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS - like clinical syndrome / Garone, C; R, D'Souza A.; Dallabona, C; Lodi, T; - Guiomar P, Rebelo; Rorbach, J; A, Donati M.; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; E, Calvo S.; K, Mootha V.; Dimauro, S; Ferrero, I; Minczuk, M.. - In: HUMAN MOLECULAR GENETICS ONLINE. - ISSN 1460-2083. - ELETTRONICO. - (2017), pp. 4257-4266. [10.1093/hmg/ddx314]

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS - like clinical syndrome

Montomoli M;Guerrini R;Zeviani M;DiMauro s;
2017

Abstract

Defects in nuclear-encoded proteins of themitochondrial translationmachinery cause early-onset and tissue-specific deficiency of one ormore OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreasedmtDNA copy number (40%) were detected in muscle homogenate.
2017
4257
4266
Garone, C; R, D'Souza A.; Dallabona, C; Lodi, T; - Guiomar P, Rebelo; Rorbach, J; A, Donati M.; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; E, Calvo S.; K, Mootha V.; Dimauro, S; Ferrero, I; Minczuk, M.
File in questo prodotto:
File Dimensione Formato  
ddx314.pdf

accesso aperto

Tipologia: Pdf editoriale (Version of record)
Licenza: Creative commons
Dimensione 1.04 MB
Formato Adobe PDF
1.04 MB Adobe PDF

I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1108903
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 52
  • ???jsp.display-item.citation.isi??? 48
social impact