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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Age of Onset
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Amino Acid Sequence
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Base Sequence
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Cardiomyopathy, Hypertrophic / etiology*
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Cardiomyopathy, Hypertrophic / pathology
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Female
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Glycogen Storage Disease Type IIb / diagnosis*
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Glycogen Storage Disease Type IIb / genetics
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Glycogen Storage Disease Type IIb / pathology
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Humans
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Lysosomal Membrane Proteins / genetics
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Lysosomal-Associated Membrane Protein 2
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Male
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Molecular Sequence Data
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Muscle Weakness / etiology*
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Muscle Weakness / pathology
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Muscle, Skeletal / pathology
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Mutation
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Reference Values
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Vacuoles / pathology
Substances
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LAMP2 protein, human
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Lysosomal-Associated Membrane Protein 2
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Lysosomal Membrane Proteins