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Condition: Cardiomyopathy
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Total 870 results found since Jan 2013.
The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation
Intern Med. 2023 Feb 15. doi: 10.2169/internalmedicine.0992-22. Online ahead of print.ABSTRACTDesminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene and represents a subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity is the pathological hallmark. We herein report a 28-year-old Japanese man who was initially diagnosed with sporadic hypertrophic cardiomyopathy with atrioventricular block at 9 years old and developed weakness in the soft palate and extremities. The myocardial tissue dissected during implantation of the ventricular-assiste...
Source: Internal Medicine - February 15, 2023 Category: Internal Medicine Authors: Naoki Takegami Akihiko Mitsutake Tatsuo Mano Yukako Shintani-Domoto Atsushi Unuma Nanaka Yamaguchi-Takegami Hiroyuki Ishiura Kaori Sakuishi Masahiko Ando Haruo Yamauchi Minoru Ono Shinichi Morishita Jun Mitsui Jun Shimizu Shoji Tsuji Tatsushi Toda Source Type: research
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase I deficiency (PGM1-CDG)
Transl Res. 2023 Jan 26:S1931-5244(23)00004-X. doi: 10.1016/j.trsl.2023.01.004. Online ahead of print.ABSTRACTPGM1 deficiency is recognized as the third most common N-linked Congenital Disorders of Glycosylation (CDG) in humans. Affected individuals present with liver, musculoskeletal, endocrine, and coagulation symptoms; however, the most life-threatening complication is the early onset of dilated cardiomyopathy (DCM). Recently, we discovered that oral D-galactose supplementation improved liver disease, endocrine and coagulation abnormalities, but does not alleviate the fatal cardiomyopathy and the associated myopathy. He...
Source: Translational Research : the journal of laboratory and clinical medicine - January 29, 2023 Category: Laboratory Medicine Authors: B Balakrishnan R Altassan R Budhraja W Liou A Lupo S Bryant A Mankouski S Radenkovic G Preston A Pandey S Boudina T Kozicz E Morava K Lai Source Type: research
A spectrum of clinical severity of recessive titinopathies in prenatal
Variants in TTN are associated with a broad range of clinical phenotypes, from dominant adult-onset dilated cardiomyopathy to recessive infantile-onset myopathy. However, few foetal cases have been reported for multiple reasons. Next-generation sequencing has facilitated the prenatal identification of a growing number of suspected titinopathy variants. We investigated six affected foetuses from three families, completed the intrauterine course of the serial phenotypic spectrum of TTN, and discussed the genotype-phenotype correlations from a broader perspective. The recognizable prenatal feature onset at the second trimeste...
Source: Frontiers in Genetics - January 25, 2023 Category: Genetics & Stem Cells Source Type: research
Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy
Chin Med J (Engl). 2022 Oct 5;135(19):2389-2391. doi: 10.1097/CM9.0000000000002004.NO ABSTRACTPMID:36535014 | DOI:10.1097/CM9.0000000000002004
Source: Chinese Medical Journal - December 19, 2022 Category: General Medicine Authors: Ye Tian Shiyao Wang Fang Wang Li Yi Mingrui Dong Xu Huang Source Type: research
