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Int J Cardiol. 2015 Aug 1;192:30-2. doi: 10.1016/j.ijcard.2015.05.004. Epub 2015 May 6.

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.

Author information

1
Department of Radiology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan. Electronic address: xhigashi@ncvc.go.jp.
2
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.
3
Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
4
Department of Pathology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.
5
Department of Cardiology, Saitama Medical Center, Saitama University, Saitama 350-8550, Japan.
6
Wakinosawa Clinic, Wakinosawa, Mutsu 039-5331, Japan.
7
Laboratory for Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan.
8
Department of Applied Biological Chemistry, Graduate School of Agriculture, Kinki University, Nara 631-8505, Japan.
9
MI Clinic, Toyonaka, Osaka 565-0004, Japan.
10
Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka 565-8565, Japan.
11
Department of Neurology, Aomori Prefectural Central Hospital, Aomori 030-8553, Japan.
12
Hiroshima-Nishi Medical Center, National Hospital Organization, Ootake 739-0696, Japan.
13
Department of Pediatrics, Takarazuka City Hospital, Takarazuka 665-0827, Japan.
14
Department of Preventive Cardiology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.
15
Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, Chikushino, Fukuoka 818-8502, Japan.
16
Director General of the Hospital, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.

KEYWORDS:

Adipose triglyceride lipase; Cardiac phenotype; Cardiomyopathy; Jordans' anomaly; Neutral lipid storage disease with myopathy; Triglyceride; Triglyceride deposit cardiomyovasculopathy

PMID:
25985012
DOI:
10.1016/j.ijcard.2015.05.004
[Indexed for MEDLINE]

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