A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
Barøy, Tuva; Pedurupillay, Christeen Ramane J; Bliksrud, Yngve T; Rasmussen, Magnhild; Holmgren, Asbjørn; Vigeland, Magnus D; Hughes, Timothy; Brink, Maaike; Rodenburg, Richard; Nedregaard, Bård; Strømme, Petter; Frengen, Eirik; Misceo, Doriana.
Eur J Med Genet
; 59(6-7): 342-6, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27182039
Molecular and clinical spectra of FBXL4 deficiency.
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.
155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands.
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
[Ultrastructural and clinical findings of mitochondrial encephalomyopathy:report of 27 cases].