Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Wedding, Iselin Marie ^a,b   Koht, Jeanette ^b,e   Tran, Gia Tuong ^c,d   Misceo, Doriana ^a,b   Selmer, Kaja Kristine ^a,b   Holmgren, Asbjørn ^a,b   Frengen, Eirik ^a,b   Bindoff, Laurence ^c,d   Tallaksen, Chantal M E ^a,b   Tzoulis, Charalampos ^c,d  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c UNIVERSITY OF BERGEN   (Norway)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e Department of Medical Microbiology   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PARAPLEGIN; PEPTIDES AND PROTEINS; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DAMAGE; FAMILY; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; MITOCHONDRIAL GENOME; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; PTOSIS; RESPIRATORY CHAIN; SKELETAL MUSCLE; SPASTIC PARAPLEGIA; SPASTIC PARAPLEGIA TYPE 7; SPG7 GENE;

AGED; BIOPSY; BRAIN; CONSANGUINITY; DNA, MITOCHONDRIAL; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; METALLOENDOPEPTIDASES; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MUSCLE, SKELETAL; PEDIGREE; SEQUENCE DELETION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84899688615     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0086340     Document Type: Article

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