|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
2008-3-31
|
|
pubmed:abstractText |
Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity. SURF1 gene mutations are among the most frequent causes of LS. Although deficiency of cytochrome c oxidase (COX) is a typical feature of the muscle in SURF1-deficient LS, other abnormalities have been rarely described. The aim of the present work is to assess the skeletal muscle morphology coexisting with SURF1 mutations from our own research and in the literature.
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-10443880,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-10647889,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-10699115,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-10746561,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-10805329,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-10863941,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-11245207,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-11279059,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-11288709,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-11341780,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-11409433,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-11509016,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-11955926,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-12026244,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-12515039,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-12566387,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-12812953,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-14557577,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-14564068,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-14874135,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-14970746,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-15119951,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-15214016,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-15269007,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-15792866,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-16120405,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-16143021,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-16222681,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-16225813,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-16426917,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-16542579,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-16765830,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-16773507,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-16948936,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-202917,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-3016603,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-6434858,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-8397379,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-8589677,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-8602753,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-9063742,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-9837813,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17908801-9843204
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
1472-4146
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
61
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
460-6
|
|
pubmed:dateRevised |
2010-9-15
|
|
pubmed:meshHeading |
pubmed-meshheading:17908801-Biopsy,
pubmed-meshheading:17908801-Child,
pubmed-meshheading:17908801-Child, Preschool,
pubmed-meshheading:17908801-Cytochrome-c Oxidase Deficiency,
pubmed-meshheading:17908801-Humans,
pubmed-meshheading:17908801-Infant,
pubmed-meshheading:17908801-Leigh Disease,
pubmed-meshheading:17908801-Lipid Metabolism,
pubmed-meshheading:17908801-Membrane Proteins,
pubmed-meshheading:17908801-Microscopy, Electron,
pubmed-meshheading:17908801-Mitochondrial Proteins,
pubmed-meshheading:17908801-Muscle, Skeletal,
pubmed-meshheading:17908801-Mutation,
pubmed-meshheading:17908801-Retrospective Studies
|
|
pubmed:year |
2008
|
|
pubmed:articleTitle |
Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.
|
|
pubmed:affiliation |
Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland. mpronicki@poczta.onet.pl
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
