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A Pathogenic LAMP2 Non-Canonical Splice Site Mutation Caused Danon Disease Requiring Heart Transplantation.

Circulation journal : official journal of the Japanese Circulation Society - 25 Mar 2024

Abe Ryo, Ko Toshiyuki, Inoue Shunsuke, Nomura Seitaro, Jimba Takahiro, Katoh Manami, Ito Masamichi, Ishida Junichi, Amiya Eisuke, Takeda Norifumi, Hatano Masaru, Morita Hiroyuki, Ono Minoru, Takeda Norihiko, Komuro Issei

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PMID: 38246647
DOI: 10.1253/circj.CJ-23-0938

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Related research

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A Pathogenic LAMP2 Non-Canonical Splice Site Mutation Caused Danon Disease Requiring Heart Transplantation.PMID 38246647Read ↗

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.Semantic proximity Read ↗

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.Semantic proximity Read ↗

Clinical features of Danon disease and insights gained from LAMP-2 deficiency modelsSemantic proximity Read ↗

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement.Semantic proximity Read ↗

Danon disease due to a novel splice mutation in the LAMP2 gene.Semantic proximity Read ↗

Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.Semantic proximity Read ↗

[A 14-year management of an early-onset female Danon disease carrier: analysis of family clinical phenotype and transplant efficacy].Semantic proximity Read ↗

Danon disease: a phenotypic expression of LAMP-2 deficiency.Semantic proximity Read ↗

Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy.Semantic proximity Read ↗

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.Semantic proximity Read ↗

Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic CardiomyopathySemantic proximity Read ↗

Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.Semantic proximity Read ↗

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