Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. [electronic resource]
Producer: 20140408Description: S315-9 p. digitalISSN:- 1573-2665
- Acidosis, Lactic -- diagnosis
- Adult
- Amino Acid Sequence
- Base Sequence
- Biomarkers -- blood
- Blepharoptosis -- diagnosis
- Cells, Cultured
- DNA Mutational Analysis
- Dietary Supplements
- Female
- Genetic Predisposition to Disease
- Heredity
- Heterozygote
- Homozygote
- Humans
- Lactic Acid -- blood
- Maple Syrup Urine Disease -- diagnosis
- Molecular Sequence Data
- Muscle Strength -- genetics
- Muscle Weakness -- diagnosis
- Mutation, Missense
- Pedigree
- Phenotype
- Photophobia -- diagnosis
- Protein Structure, Tertiary
- Pyruvate Dehydrogenase Complex Deficiency Disease -- diagnosis
- Spain
- Thiamine -- therapeutic use
- Thioctic Acid -- analogs & derivatives
- Treatment Outcome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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