Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient

Neuromuscular Disorders

Volumn 19, Issue 2, 2009, Pages 143-146

  Blázquez, Alberto ^a,b   Gil Borlado, Mari Carmen ^a,b   Morán, María ^a,b   Verdú, Alfonso ^c   Cazorla Calleja, María Rosario ^c   Martín, Miguel A ^a,b   Arenas, Joaquín ^a,b   Ugalde, Cristina ^a,b  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b CENTRO NACIONAL DE INVESTIGACIONES CARDIOVASCULARES CNIC   (Spain)

^c HOSPITAL VIRGEN DE LA SALUD   (Spain)

Author keywords

Assembly; BCS1L; Encephalomyopathy; Mitochondria; OXPHOS disorders

Indexed keywords

ALANINE AMINOTRANSFERASE; ASCORBIC ACID; ASPARTATE AMINOTRANSFERASE; CARNITINE; CITRATE SYNTHASE; CYTOCHROME C OXIDASE; LACTIC ACID; OXIDOREDUCTASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UBIQUINONE; VITAMIN K GROUP;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BCS1L GENE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPLEX III DEFICIENCY; ENZYME ACTIVITY; ENZYME ISOLATION; FACE DYSMORPHIA; GENE; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GROWTH RETARDATION; HOMOGENATE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERLACTATEMIA; INFANTILE MITOCHONDRIAL ENCEPHALOMYOPATHY; LACTATE BLOOD LEVEL; LIVER DYSFUNCTION; LIVER FUNCTION TEST; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKIN FIBROBLAST; VITAMIN SUPPLEMENTATION;

DNA MUTATIONAL ANALYSIS; DOWN-REGULATION; ELECTRON TRANSPORT COMPLEX III; FACIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; MALE; MENTAL RETARDATION; MITOCHONDRIAL DISEASES; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; MUTATION; PHENOTYPE; PSYCHOMOTOR DISORDERS;

EID: 59149093375     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.11.016     Document Type: Article

References (9)

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