Iselin Marie Wedding Jeanette Koht Gia Tuong Tran Doriana Misceo Kaja Kristine Selmer Asbjørn Holmgren Eirik Frengen Laurence Bindoff Chantal M E Tallaksen Charalampos Tzoulis
10.1371/journal.pone.0086340
PLoS One
2014 Jan 22;9(1):e86340.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24466038/
DNA, Mitochondrial Sequence Deletion Spastic Paraplegia, Hereditary / genetics
DNA, Mitochondrial Sequence Deletion Spastic Paraplegia, Hereditary / genetics Case Reports Research Support, Non-U.S. Gov't ATPases Associated with Diverse Cellular Activities Aged Biopsy Brain / pathology Brain / physiopathology Consanguinity Electroencephalography Electromyography Female Humans Magnetic Resonance Imaging Male Metalloendopeptidases / genetics Middle Aged Mitochondria, Muscle / genetics Muscle, Skeletal / pathology Muscle, Skeletal / physiopathology Pedigree Spastic Paraplegia, Hereditary / diagnosis DNA, Mitochondrial Metalloendopeptidases SPG7 protein, human ATPases Associated with Diverse Cellular Activities
PMC3899233
24466038
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
2014