Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity.

Clinical neuropathology - 1 Jan 2000

Luo Su-shan, Xi Jian-ying, Cai Shuang, Zhao Chong-bo, Lu Jia-hong, Zhu Wen-hua, Lin Jie, Qiao Kai, Wang Yin, Ye Zhu-rong

Abstract excerpt

AIMS: Danon disease is an Xlinked dominant lysosomal glycogen storage disorder characterized by cardiomyopathy, skeletal myopathy, and mental retardation. This study described two Chinese cases of Danon disease in order to broaden the phenotypic and genetic spectrum. METHODS: Clinical data were collected and LAMP2 mutations were analyzed. RESULTS: Patient A had fluctuating limb weakness during 6 months follow-up...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Blotting, Western

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Immunohistochemistry

Share to Lysosomal-Associated Membrane Protein 2

Share to Pedigree

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Young Adult

Source

Identifiers

PMID: 24691104
DOI: 10.5414/NP300668

Genes

LAMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity.PMID 24691104Read ↗

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

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

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.Semantic proximity Read ↗

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

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

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.Semantic proximity Read ↗

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

Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum.Semantic proximity Read ↗

Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.Semantic proximity Read ↗

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

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

[Clinical characterization of patients with Danon disease].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.