Title: | Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses |
Journal : | Mitochondrion, 27 |
Authors: | Vanlander AV, Author ; Muino Mosquera L ; Panzer J ; Deconinck T ; Smet J ; Seneca S ; Van Dorpe J ; Ferdinande L ; Ceuterick-de Groote C ; De Jonghe P ; van Coster R ; Baets J |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 32 |
Languages: | English |
Keywords : | case studies ; children ; choline kinase bêta ; consanguinity ; enzyme activity ; genetic insertions ; heart muscle ; intellectual developmental disorder ; megaconial myopathy ; mitochondria ; muscle histopathology ; psychomotor development disorders ; respiratory chain ; skeletal muscle ; spectrophotometry |
Keywords: | CHKB;Heart transplantation;Microscopy;Mitochondria;OXPHOS; |
Pubmed / DOI : | DOI : 10.1016/j.mito.2016.02.001 / Pubmed : 26855408 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/26855408 |