Children's Cardiomyopathy Foundation
Supported Diseases
Barth syndrome
Synonyms:
BTHS, 3-methylglutaconic aciduria type II, MGA type II, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, TAZ defect
Danon disease
Synonyms:
Vacuolar cardiomyopathy and myopathy X-linked, X-linked vacuolar cardiomyopathy and myopathy, Antopol disease, Pseudoglycogenosis 2, Glycogen storage disease limited to the heart, Glycogen storage cardiomyopathy, Glycogen storage disease type 2b (formerly), Lysosomal glycogen storage disease without acid maltase deficiency (formerly), GSD2B (formerly)
Enfermedad de Danon
Synonyms:
Enfermedad de depósito de glucógeno lisosómico debida a un déficit de LAMP-2, Enfermedad de depósito de glucógeno lisosómico con actividad de maltasa ácida normal, Enfermedad de almacenamiento de glucógeno por déficit de LAMP-2
Myofibrillar myopathy
Synonyms:
Desminopathy (type), Alpha Beta crystallinopathy (type), Myotilinopathy (type), Zaspopathy (type), Filaminopathy (type), Desmin storage myopathy (former name), Desmin related myopathy (former name), Protein surplus myopathy (former name)
