TY  - GEN
AU  - Quintana,Ester
AU  - Pineda,Mercé
AU  - Font,Aida
AU  - Vilaseca,Maria Antonia
AU  - Tort,Frederic
AU  - Ribes,Antonia
AU  - Briones,Paz
TI  - Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain
SN  - 1573-2665
PY  - 2014///0408
KW  - Acidosis, Lactic
KW  - diagnosis
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Biomarkers
KW  - blood
KW  - Blepharoptosis
KW  - Cells, Cultured
KW  - DNA Mutational Analysis
KW  - Dietary Supplements
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Heredity
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Lactic Acid
KW  - Maple Syrup Urine Disease
KW  - Molecular Sequence Data
KW  - Muscle Strength
KW  - genetics
KW  - Muscle Weakness
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Photophobia
KW  - Protein Structure, Tertiary
KW  - Pyruvate Dehydrogenase Complex Deficiency Disease
KW  - Spain
KW  - Thiamine
KW  - therapeutic use
KW  - Thioctic Acid
KW  - analogs & derivatives
KW  - Treatment Outcome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10545-010-9169-4
ER  -