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Article

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.

Journal of inherited metabolic disease - 1 Apr 2011

Cottinet Sarah-Louise, Bergemer-Fouquet Anne-Marie, Toutain Annick, Sabourdy Frédérique, Maakaroun-Vermesse Zoha, Levade Thierry, Chantepie Alain, Labarthe François

Abstract excerpt

Danon disease is an X-linked lysosomal disorder, characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. We report a family with a novel mutation, in which the mother and her three sons were affected with various clinical presentations. A massive hypertrophy of the left ventricle was the predominant feature in the three male patients, with different degrees of severity of cardiac...

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Source

Identifiers

PMID: 21161685
DOI: 10.1007/s10545-010-9251-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.PMID 21161685Read ↗

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

A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.Semantic proximity Read ↗

A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.Semantic proximity Read ↗

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

Danon disease: focusing on heart.Semantic proximity Read ↗

Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).Semantic proximity Read ↗

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

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

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