Early onset cardiomyopathy in females with Danon disease

Highlights • We studied early onset cardiomyopathy in females with Danon disease. • No skeletal muscle disease but severe cardiomyopathy. • No skewed X-chromosome inactivation but remarkable distribution of LAPM2.

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Bibliographische Detailangaben
Veröffentlicht in:	Neuromuscular disorders : NMD 2015-06, Vol.25 (6), p.493-501
Hauptverfasser:	Hedberg Oldfors, Carola, Máthé, Gyöngyvér, Thomson, Kate, Tulinius, Mar, Karason, Kristjan, Östman-Smith, Ingegerd, Oldfors, Anders
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Cardiomyopathy Child Clinical Laboratory Medicine Clinical Neurology Danon disease Disease Progression EXPRESSION FEATURES Female Female carriers GENETIC-CHARACTERIZATION Glycogen Storage Disease Type IIb - genetics Glycogen Storage Disease Type IIb - metabolism Glycogen Storage Disease Type IIb - pathology HEART Humans HYPERTROPHIC CARDIOMYOPATHY Klinisk laboratoriemedicin LAMP2 Lysosomal-Associated Membrane Protein 2 - genetics MANIFESTING CARRIERS Muscle, Skeletal - metabolism Muscle, Skeletal - pathology MUTATION Myocardium - metabolism Myocardium - ultrastructure Neurology Neurosciences Sequence Analysis X-chromosome inactivation
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Beschreibung
Zusammenfassung:	Highlights • We studied early onset cardiomyopathy in females with Danon disease. • No skeletal muscle disease but severe cardiomyopathy. • No skewed X-chromosome inactivation but remarkable distribution of LAPM2.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2015.03.005