A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 556-559

  Yagi, Mariko ^a   Lee, Tomoko ^a   Awano, Hiroyuki ^a   Tsuji, Masahiro ^b   Tajima, Go ^c   Kobayashi, Hironori ^d   Hasegawa, Yuki ^d   Yamaguchi, Seiji ^d   Takeshima, Yasuhiro ^a   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^c HIROSHIMA UNIVERSITY   (Japan)

^d SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

Author keywords

Fatty acid oxidation; HADHB gene; Long chain 3 ketoacyl CoA dehydrogenase (LKAT); Mitochondrial trifunctional protein (MTP); Rhabdomyolysis

Indexed keywords

ACETYL COENZYME A ACYLTRANSFERASE; ACYLCARNITINE; LONG CHAIN HYDROXYACYL COENZYME A DEHYDROGENASE; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN; OCTAMER TRANSCRIPTION FACTOR; OXIDOREDUCTASE; PROTEIN SUBUNIT; UNCLASSIFIED DRUG;

ADOLESCENCE; ADOLESCENT; ARTICLE; BLOOD; BLOOD ANALYSIS; CASE REPORT; CHILDHOOD DISEASE; FEMALE; GENE; GENE MUTATION; HADHB GENE; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; JAPAN; MYALGIA; NEUROMUSCULAR DISEASE; PATIENT REFERRAL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RECURRENT DISEASE; RHABDOMYOLYSIS; SKIN FIBROBLAST;

ADOLESCENT; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; HETEROZYGOTE; HUMANS; MULTIENZYME COMPLEXES;

EID: 82255179325     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.09.025     Document Type: Article

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