Table 3.

Selected Genes of Interest in the Differential Diagnosis of Danon Disease

Gene(s)DisorderMOICardiomyopathySkeletal Muscle
GAA Pompe disease ARSevere early-onset hypertrophic cardiomyopathyRapidly progressive muscle weakness (infantile form only)
MYBPC3
MYBPC3
TNNI3
TNNT2
(>30 genes) 1		 Hypertrophic cardiomyopathy ADHypertrophic cardiomyopathyNormal
PRKAG2 Familial Wolff-Parkinson White syndrome (OMIM 194200) 2AD
  • Wolff-Parkinson White syndrome w/or w/o hypertrophic cardiomyopathy
  • Vacuolar cardiomyopathy & ↑ myocardial glycogen (in severe congenital cases; see OMIM 261740)
Normal
VMA21 X-linked myopathy w/excessive autophagy 3 (OMIM 310440)XLHypertrophic cardiomyopathy (mild) in a minority of cases
  • Hypotonia & muscle atrophy
  • ↑ creatine kinase
  • Autophagocytic vacuoles on muscle biopsy
1.

Listed genes represent the most common genes known to be associated with hypertrophic cardiomyopathy. See Phenotypic Series: Familial hypertrophic cardiomyopathy for additional genes associated with this phenotype in OMIM.

2.

Mutation of PRKAG2 is also known to be associated with hypertrophic cardiomyopathy.

3.

X-linked myopathy w/excessive autophagy is also associated with scoliosis and has extraocular muscle involvement.

From: Danon Disease

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