Article
Clinicopathological features of genetically confirmed Danon disease.
Neurology - 25 Jun 2002
Sugie K, Yamamoto A, Murayama K, Oh S J, Takahashi M, Mora M, Riggs J E, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I
Abstract excerpt
BACKGROUND: Danon disease is due to primary deficiency of lysosome-associated membrane protein-2. OBJECTIVE: To define the clinicopathologic features of Danon disease. METHODS: The features of 20 affected men and 18 affected women in 13 families with genetically confirmed Danon disease were revie...
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