Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Saara Tegelberg, Nikica Tomasic, Jukka Kallijärvi, Janne Purhonen, Eskil Elmer, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A. Eklund, Vineta Fellman

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number73
JournalOrphanet journal of rare diseases
Volume12
Number of pages14
ISSN1750-1172
DOIs
Publication statusPublished - 20 Apr 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Mitochondrial disorder
  • Respiratory chain
  • Respirometry
  • Assembly factors
  • Blue native gel electrophoresis
  • Encephalopathy
  • Hepatopathy
  • Microglia
  • Barrel cortex
  • LETHAL METABOLIC-DISORDER
  • FETAL-GROWTH-RETARDATION
  • IRON-OVERLOAD
  • GRACILE SYNDROME
  • MITOCHONDRIAL DISEASE
  • SUBVENTRICULAR ZONE
  • LACTIC-ACIDOSIS
  • NEUROPATHOLOGY
  • NEUROGENESIS
  • MUTATIONS
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

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