Frameshift mutation of LAMP2:c.667delT in a 17-year-old male with hypertrophic cardiomyopathy and dyslexia: a novel pathogenic variant for Danon disease-Reference-Cited by-同舟云学术

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Frameshift mutation of LAMP2:c.667delT in a 17-year-old male with hypertrophic cardiomyopathy and dyslexia: a novel pathogenic variant for Danon disease

Published:2024-05-09 Issue: Volume: Page:
ISSN:0037-5675
Container-title:Singapore Medical Journal
language:en
Short-container-title:

Author:

Sani Huzairi¹²³^ORCID,Teh Lay Kek²⁴,Noorizhab Mohd Nur Fakhruzzaman²⁴,Zainal Abidin Norzuliana²,Mat Yusuf Umi Nabila²,Zulkufli Nada Syazana²,Kasim Sazzli¹³,Salleh Mohd Zaki²⁴^ORCID

Affiliation:

1. Cardiology Unit, Faculty of Medicine, Universiti Teknologi MARA Selangor Branch, Sungai Buloh Campus, Selangor, Malaysia

2. Integrative Pharmacogenomics Institute, Universiti Teknologi MARA Selangor Branch, Puncak Alam Campus, Selangor, Malaysia

3. Cardiovascular and Lungs Research Institute (CaVaLRI), Pusat Perubatan Universiti Teknologi MARA, Sungai Buloh Campus, Selangor, Malaysia

4. Faculty of Pharmacy, Universiti Teknologi MARA Selangor Branch, Puncak Alam Campus, Selangor, Malaysia

Publisher

Medknow

Reference21 articles.

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

2. Danon disease;D'souza;Circ Hear Fail,2014

3. Ophthalmic manifestations of Danon disease;Prall;Ophthalmology,2006

4. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice;Tanaka;Nature,2000

5. Natural history of Danon disease;Boucek;Genet Med,2011

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