Published July 2005
| Version v1
Journal article
PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis
Creators
- 1. Department of Pediatric Medical Education, Miami Children's Hospital, Miami, Florida (United States)
- 2. Department of Pediatric Cardiology, Miami Children's Hospital, Miami, Florida (United States)
- 3. Department of Medical Genetics, Miami Children's Hospital, Miami, Florida (United States)
Description
Mutations in PRKAG2 gene that regulates the γ2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system abnormalities. These patients can potentially be misdiagnosed as hypertrophic cardiomyopathy (HOCM) and/or Wolf-Parkinson White (WPW) syndrome due to similar clinical phenotype. Early recognition of this disease entity is very important as ablation of suspected accessory pathways is not effective and the natural history of the disease is very different from HOCM and WPW syndrome
Availability note (English)
Available from http://dx.doi.org/10.4103/0974-2069.154149; Available from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453188Additional details
Identifiers
Publishing Information
- Journal Title
- Annals of pediatric cardiology
- Journal Volume
- 8
- Journal Issue
- 2
- Journal Page Range
- p. 153-156
- ISSN
- 0974-2069
INIS
- Country of Publication
- India
- Country of Input or Organization
- International Atomic Energy Agency (IAEA)
- INIS RN
- 46093506
- Subject category
- S60: APPLIED LIFE SCIENCES; S62: RADIOLOGY AND NUCLEAR MEDICINE;
- Descriptors DEI
- ABLATION; AMP; DISEASES; GENES; HYPERTROPHY; MUTATIONS; PATIENTS; PHENOTYPE; PROTEINS
- Descriptors DEC
- NUCLEOTIDES; ORGANIC COMPOUNDS; PATHOLOGICAL CHANGES
Optional Information
- Notes
- PMCID: PMC4453188; PMID: 26085771; PUBLISHER-ID: APC-8-153; OAI: oai:pubmedcentral.nih.gov:4453188; Copyright: (c) Annals of Pediatric Cardiology; This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.