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A 13-YEAR-OLD GIRL WITH PROXIMAL WEAKNESS AND HYPERTROPHIC CARDIOMYOPATHY WITH DANON DISEASE
Cited 17 time in
Web of Science
Cited 19 time in Scopus
- Authors
- Issue Date
- 2010-06
- Publisher
- JOHN WILEY & SONS INC
- Citation
- MUSCLE & NERVE; Vol.41(6); 879-882
- Keywords
- autophagic vacuole ; cardiomyopathy ; Danon disease ; LAMP-2 ; female
- Abstract
- Danon disease is caused by deficiency of lysosome-associated membrane protein-2 (LAMP-2). It is characterized clinically by cardiomyopathy, myopathy, and mental retardation in boys. Herein we report a 13-year-old female patient with Danon disease who presented with early-onset skeletal myopathy and cardiomyopathy. She had a de novo novel mutation in the LAMP2 gene, and her muscles showed many autophagic vacuoles with sarcolemmal features and complete absence of LAMP-2 expression. To the best of our knowledge, this girl is one of the earliest-onset manifesting carriers of Danon disease with typical muscle pathology.
- ISSN
- 0148-639X
- Language
- English
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