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Article

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

Neuromuscular disorders : NMD - 1 Apr 2005

Lobrinus J A, Schorderet D F, Payot M, Jeanrenaud X, Bottani A, Superti-Furga A, Schlaepfer J, Fromer M, Jeannet P-Y

Abstract excerpt

A family with several cases of severe cardiomyopathy and moderate myopathy is described, affecting two brothers and their cousin as well as their mothers. One boy died of sudden cardiac arrest at 17 years of age. The two brothers were treated with an implantable defibrillator and their mother died suddenly at 40 years of age. Muscle biopsy in males showed vacuolar myopathy in two cases, and no abnormality on...

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PMID: 15792868
DOI: 10.1016/j.nmd.2004.12.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).PMID 15792868Read ↗

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Danon disease presenting with dilated cardiomyopathy and a complex phenotype.Semantic proximity Read ↗

Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutationSemantic proximity Read ↗

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

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.Semantic proximity Read ↗

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