Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Quintana, Ester ^a   Pineda, Mercé ^b,c   Font, Aida ^c   Vilaseca, Maria Antonia ^b   Tort, Frederic ^a   Ribes, Antonia ^a   Briones, Paz ^a,c,d  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d CSIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; DIHYDROLIPOAMIDE; DRUG DERIVATIVE; LACTIC ACID; THIAMINE; THIOCTIC ACID;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BLOOD; CASE REPORT; CELL CULTURE; CHEMISTRY; DIET SUPPLEMENTATION; ENZYMOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LACTIC ACIDOSIS; MAPLE SYRUP URINE DISEASE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE STRENGTH; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PHOTOPHOBIA; PROTEIN TERTIARY STRUCTURE; PTOSIS; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SPAIN; TREATMENT OUTCOME; URINE; ACIDOSIS, LACTIC; ANALOGS AND DERIVATIVES; BLEPHAROPTOSIS; DEFICIENCY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

ACIDOSIS, LACTIC; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BIOLOGICAL MARKERS; BLEPHAROPTOSIS; CELLS, CULTURED; DIETARY SUPPLEMENTS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LACTIC ACID; MAPLE SYRUP URINE DISEASE; MOLECULAR SEQUENCE DATA; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHOTOPHOBIA; PROTEIN STRUCTURE, TERTIARY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SPAIN; THIAMINE; THIOCTIC ACID; TREATMENT OUTCOME;

EID: 84897955962     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9169-4     Document Type: Article

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