title: Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.
authors.affiliation: Department of Radiology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan. Electronic address: xhigashi@ncvc.go.jp.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Higashi
authors.affiliation: Laboratory for Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan; Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University, Suita, Osaka 565-0871, Japan. Electronic address: khirano@cnt-osaka.com.
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Hirano
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.affiliation: Department of Pathology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Ikeda
authors.affiliation: Department of Cardiology, Saitama Medical Center, Saitama University, Saitama 350-8550, Japan.
authors.forename: Ami
authors.initials: A
authors.lastname: Issiki
authors.affiliation: Wakinosawa Clinic, Wakinosawa, Mutsu 039-5331, Japan.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Otsuka
authors.affiliation: Laboratory for Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Suzuki
authors.affiliation: Laboratory for Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yamaguchi
authors.affiliation: Department of Applied Biological Chemistry, Graduate School of Agriculture, Kinki University, Nara 631-8505, Japan.
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Zaima
authors.affiliation: MI Clinic, Toyonaka, Osaka 565-0004, Japan.
authors.forename: Seiki
authors.initials: S
authors.lastname: Hamada
authors.affiliation: Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka 565-8565, Japan.
authors.forename: Hironori
authors.initials: H
authors.lastname: Hanada
authors.affiliation: Department of Neurology, Aomori Prefectural Central Hospital, Aomori 030-8553, Japan.
authors.forename: Chieko
authors.initials: C
authors.lastname: Suzuki
authors.affiliation: Hiroshima-Nishi Medical Center, National Hospital Organization, Ootake 739-0696, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nakamura
authors.affiliation: Department of Pediatrics, Takarazuka City Hospital, Takarazuka 665-0827, Japan.
authors.forename: Hironori
authors.initials: H
authors.lastname: Nagasaka
authors.affiliation: Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka 565-8565, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Miyata
authors.affiliation: Department of Preventive Cardiology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Miyamoto
authors.affiliation: Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, Chikushino, Fukuoka 818-8502, Japan.
authors.forename: Kunihisa
authors.initials: K
authors.lastname: Kobayashi
authors.affiliation: Director General of the Hospital, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Naito
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D005260:Female; D006333:Heart Failure / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007564:Japan; D008049:Lipase / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics; D000217:Acyltransferases
chemical_list: D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases
keywords: Adipose triglyceride lipase; Cardiac phenotype; Cardiomyopathy; Jordans' anomaly; Neutral lipid storage disease with myopathy; Triglyceride; Triglyceride deposit cardiomyovasculopathy