Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene-Reference-Cited by-同舟云学术

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

Published:2019-05-04 Issue:3 Volume:40 Page:227-236
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Meinert Monika¹,Englund Elisabet²,Hedberg-Oldfors Carola³,Oldfors Anders³,Kornhall Björn⁴,Lundin Catarina⁵,Wittström Elisabeth¹

Affiliation:

1. Department of Clinical Sciences Lund, Ophthalmology, Lund University, Skane University Hospital, Lund, Sweden

2. Department of Clinical Sciences Lund, Oncology and Pathology, Lund University, Skane University Hospital, Lund, Sweden

3. Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden

4. Department of Clinical Sciences Lund, Cardiology, Lund University, Skane University Hospital, Lund, Sweden

5. Department of Clinical Sciences Lund, Genetics and Pathology, Lund University, Skane University Hospital, Lund, Sweden

Funder

Foundation for the Visually Impaired in the former county of Malmöhus

Konsul Thure Carlsson’s Memorial Foundation

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://tandfonline.com/doi/pdf/10.1080/13816810.2019.1627464

Reference29 articles.

1. Natural history of Danon disease

2. Lysosomal glycogen storage disease with normal acid maltase

3. Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy

4. Clinicopathological features of genetically confirmed Danon disease

5. Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)

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1. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

2. Danon disease: a case report and literature review;Diagnostic Pathology;2021-05-01

3. Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease;Acta Ophthalmologica;2020-06-13

4. Review: Danon disease: Review of natural history and recent advances;Neuropathology and Applied Neurobiology;2019-11-25