Characterization of Danon disease in a male patient and his affected mother-Reference-Cited by-同舟云学术

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Characterization of Danon disease in a male patient and his affected mother

Published:2003-11 Issue:9 Volume:13 Page:708-711
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Sugie Kazuma,Koori Tateo,Yamamoto Ayaka,Ogawa Megumu,Hirano Michio,Inoue Kiyoharu,Nonaka Ikuya,Nishino Ichizo

Publisher

Elsevier BV

Subject

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

Reference10 articles.

1. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease);Nishino;Nature,2000

2. Clinicopathological features of genetically confirmed Danon disease;Sugie;Neurology,2002

3. Lysosomal glycogen storage disease with normal acid maltase;Danon;Neurology,1981

4. Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels;Byrne;Brain,1986

5. Lysosomal glycogen storage disease without acid maltase deficiency;Riggs;Neurology,1983

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1. A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study;CELL J;2024

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

3. Identification of vacuolar autophagic aggregates in the skeletal muscles of inbred C57BL/6NCrl mice;Laboratory Animals;2023-01-05

4. De novo LAMP2 insertion mutation causes cardiac-only Danon disease: A case report;Frontiers in Cardiovascular Medicine;2022-09-16

5. Autophagy dysfunction in skeletal myopathies: Inclusion body myositis and Danon disease;Autophagy Dysfunction in Alzheimer's Disease and Dementia;2022

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