A novel homozygous missense mutation in

ATGL, adipose triglyceride lipase Adipose triglyceride lipase BMIPP, 123I-β-idophenyl-p-pentadecanoic acid CTx, cardiac transplantation HE, hematoxylin-eosin Heart failure Mutation NLSD, neutral lipid storage disease NLSD-I, NLSD with ichthyosis NLSD-M, NLSD with myopathy PCR, polymerase chain reaction PLIN2, perilipin-2 PNPLA2 TGCV, triglyceride deposit cardiomyovasculopathy Triglyceride deposit cardiomyovasculopathy WR, washout rate

Journal

Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422

Informations de publication

Date de publication:
Mar 2023
Historique:
received: 14 01 2023
revised: 04 02 2023
accepted: 05 02 2023
entrez: 27 2 2023
pubmed: 28 2 2023
medline: 28 2 2023
Statut: epublish

Résumé

Primary triglyceride deposit cardiomyovasculopathy (P-TGCV), caused by a rare genetic mutation in

Identifiants

DOI: 10.1016/j.ymgmr.2023.100960 PMID: 36846631 PMC: PMC9945797
pubmed: 36846631
doi: 10.1016/j.ymgmr.2023.100960
pii: S2214-4269(23)00006-X
pmc: PMC9945797
doi:

Types de publication

Case Reports

Langues

eng

Pagination

100960

Informations de copyright

© 2023 The Authors.

Déclaration de conflit d'intérêts

YH and KH have held the positions of the Joint Research Chair in collaboration with Toa Eiyo Ltd. (Tokyo, Japan) since February 2021. KH has been serving as a medical advisor for Toa Eiyo Ltd. since December 2021. The other authors have no competing interests to declare.

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Auteurs

Yasuhiro Hara (Y)

Laboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.

Yoshihiko Ikeda (Y)

Laboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.
Department of Pathology, National Cerebral and Cardiovascular Center, 6-1, Kishibeshinmachi, Suita, Osaka 564-8565, Japan.

Hayato Kimura (H)

Department of Pathology, Itami City Hospital, 1-100, Koyaike, Itami, Hyogo 664-8540, Japan.

Shinsaku Shimamoto (S)

Department of Cardiology, Itami City Hospital, 1-100, Koyaike, Itami, Hyogo 664-8540, Japan.

Mao Ishikawa (M)

Laboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.

Kunihisa Kobayashi (K)

Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, 1-1-1, Zokumyoin, Chikushino, Fukuoka 818-8502, Japan.

Hironori Nagasaka (H)

Department of Pediatrics, Iwate Prefectural Isawa Hospital, 61, Aza Ryugababa, Mizusawa, Ohshu, Iwate 023-0864, Japan.

Hisashi Shimoyama (H)

Department of Cardiology, Itami City Hospital, 1-100, Koyaike, Itami, Hyogo 664-8540, Japan.

Ken-Ichi Hirano (KI)

Laboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.

Classifications MeSH