Cargando…

Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case report

BACKGROUND: Familial dilated cardiomyopathy (FDCM) is most commonly inherited as an autosomal dominant trait. The Lamin A/C (LMNA) gene variants have been identified to be associated with DCM, conductive system disorders, type 2 Emery-Dreifuss muscular dystrophy and several other disorders. Here, we...

Descripción completa

Detalles Bibliográficos
Autores principales:	Huang, Jing, Wan, Qing, Zou, Yu, Wang, Lijie, Pan, Yesheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509919/ https://www.ncbi.nlm.nih.gov/pubmed/32962641 http://dx.doi.org/10.1186/s12872-020-01695-8

Ejemplares similares

Lamin A/C truncation in dilated cardiomyopathy with conduction disease
por: MacLeod, Heather M, et al.
Publicado: (2003)

Dilated cardiomyopathy produced by lamin A/C gene mutations
por: GOIDESCU, CERASELA MIHAELA
Publicado: (2013)

TEAD1 trapping by the Q353R–Lamin A/C causes dilated cardiomyopathy
por: Yamada, Shintaro, et al.
Publicado: (2023)

New Insights Into the Therapy for Lamin-Associated Dilated Cardiomyopathy
por: Zhang, Hao, et al.
Publicado: (2022)

Viscoelastic Behavior of Human Lamin A Proteins in the Context of Dilated Cardiomyopathy
por: Banerjee, Avinanda, et al.
Publicado: (2013)

Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family
por: Malakootian, Mahshid, et al.
Publicado: (2022)

A novel c.563 T>G, p.L189R lamin A/C mutation in identical twins with dilated cardiomyopathy
por: Lee, Euijae, et al.
Publicado: (2017)

Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene
por: Toro, Rocio, et al.
Publicado: (2016)

Cardiomyopathy, familial dilated
por: Taylor, Matthew RG, et al.
Publicado: (2006)

Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy
por: Holmström, Miia, et al.
Publicado: (2011)

Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells
por: Lee, Yee‐Ki, et al.
Publicado: (2017)

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
por: Landim-Vieira, Maicon, et al.
Publicado: (2020)

Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant
por: Costa, Sarah, et al.
Publicado: (2021)

Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant
por: Paller, Mark S., et al.
Publicado: (2018)

Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies
por: Zhang, Yu-Qian, et al.
Publicado: (2008)

A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia
por: Wittlieb-Weber, Carol A., et al.
Publicado: (2015)

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
por: Guo, Jun, et al.
Publicado: (2019)

Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy
por: Chen, Yuanying, et al.
Publicado: (2022)

Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death
por: Yokokawa, Tetsuro, et al.
Publicado: (2019)

Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation
por: Adadi, Najlae, et al.
Publicado: (2018)

Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy
por: Orlova, Anna, et al.
Publicado: (2022)

Genetic Ablation of the DNA Damage Response Pathway Attenuates Lamin-Associated Dilated Cardiomyopathy in Mice
por: Cheedipudi, Sirisha M., et al.
Publicado: (2022)

A rare cause of dilated cardiomyopathy: hypocalcemia
por: Mutlu, Ummu, et al.
Publicado: (2022)

Rare combination of dilated cardiomyopathy and ankylosing spondylitis in a family
por: Xing, Yun-Li, et al.
Publicado: (2018)

Reversible dilated cardiomyopathy caused by hypothyroidism
por: Khochtali, I, et al.
Publicado: (2011)

Systematic in vivo candidate evaluation uncovers therapeutic targets for LMNA dilated cardiomyopathy and risk of Lamin A toxicity
por: Tan, Chia Yee, et al.
Publicado: (2023)

Role of Titin Missense Variants in Dilated Cardiomyopathy
por: Begay, Rene L., et al.
Publicado: (2015)

Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease
por: Sedaghat-Hamedani, Farbod, et al.
Publicado: (2021)

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
por: Parry, David A., et al.
Publicado: (2020)

A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy
por: Levitas, Aviva, et al.
Publicado: (2020)

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
por: Fujimoto, Hana Milena, et al.
Publicado: (2023)

Genetic Variations Leading to Familial Dilated Cardiomyopathy
por: Cho, Kae Won, et al.
Publicado: (2016)

Lamin A/C Cardiomyopathy with E203K Pathogenic Mutation
por: Sheikh, Fahad N, et al.
Publicado: (2020)

Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy
por: Wasielewski, Marijke, et al.
Publicado: (2014)

Reversible dilated cardiomyopathy caused by idiopathic hypoparathyroidism
por: Jung, Youn Joo, et al.
Publicado: (2013)

A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy
por: Micolonghi, Caterina, et al.
Publicado: (2023)

An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation
por: Jadhav, Khushal B., et al.
Publicado: (2012)

Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death
por: Fernlund, Eva, et al.
Publicado: (2017)

Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy
por: Yuan, Hai-Xin, et al.
Publicado: (2017)

A Family History of Dilated Cardiomyopathy Induced by Viral Myocarditis
por: Cognet, Thomas, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_mbnjguoh67fo1dblp6vgoh6u0q