Quintana, Ester <br/><br/>
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.  [electronic resource] 

 -  Journal of inherited metabolic disease  Dec 2010 
 - S315-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-010-9169-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acidosis, Lactic--diagnosis<br/>Adult<br/>Amino Acid Sequence<br/>Base Sequence<br/>Biomarkers--blood<br/>Blepharoptosis--diagnosis<br/>Cells, Cultured<br/>DNA Mutational Analysis<br/>Dietary Supplements<br/>Female<br/>Genetic Predisposition to Disease<br/>Heredity<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Lactic Acid--blood<br/>Maple Syrup Urine Disease--diagnosis<br/>Molecular Sequence Data<br/>Muscle Strength--genetics<br/>Muscle Weakness--diagnosis<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Photophobia--diagnosis<br/>Protein Structure, Tertiary<br/>Pyruvate Dehydrogenase Complex Deficiency Disease--diagnosis<br/>Spain<br/>Thiamine--therapeutic use<br/>Thioctic Acid--analogs & derivatives<br/>Treatment Outcome