Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1993-3-26
|
| pubmed:abstractText |
A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome can be transmitted by maternal inheritance.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0022-3476
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
122
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
419-22
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:8095070-Adenosine Triphosphatases,
pubmed-meshheading:8095070-Child,
pubmed-meshheading:8095070-DNA, Mitochondrial,
pubmed-meshheading:8095070-Female,
pubmed-meshheading:8095070-Humans,
pubmed-meshheading:8095070-Leigh Disease,
pubmed-meshheading:8095070-Point Mutation,
pubmed-meshheading:8095070-Polymerase Chain Reaction,
pubmed-meshheading:8095070-Polymorphism, Restriction Fragment Length
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
Maternally inherited Leigh syndrome.
|
| pubmed:affiliation |
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, New York.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|