Journal article
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex
Human molecular genetics, Vol.20(23), pp.4644-4654
12/01/2011
DOI: 10.1093/hmg/ddr398
PMCID: PMC3209833
PMID: 21890494
Abstract
Cardiomyopathy is a puzzling complication in addition to skeletal muscle pathology for patients with mutations in β-, γ- or δ-sarcoglycan (SG) genes. Patients with mutations in α-SG rarely have associated cardiomyopathy, or their cardiac pathology is very mild. We hypothesize that a fifth SG, ɛ-SG, may compensate for α-SG deficiency in the heart. To investigate the function of ɛ-SG in striated muscle, we generated an
Details
- Title: Subtitle
- Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex
- Creators
- Alessio Lancioni - Telethon Institute of Genetics and MedicineIda Luisa Rotundo - Telethon Institute of Genetics and MedicineYvonne Monique Kobayashi - Roy J. and Lucille A. Carver College of Medicine, University of IowaLuca D'Orsi - Telethon Institute of Genetics and MedicineStefania Aurino - Telethon Institute of Genetics and MedicineGerardo Nigro - A.O. Monaldi, Seconda Università di NapoliGiulio Piluso - Seconda Università degli Studi di NapoliDario Acampora - Institute of Genetics and Biophysics–CEINGE Biotecnologie AvanzateMafalda Cacciottolo - Telethon Institute of Genetics and MedicineKevin P Campbell - Roy J. and Lucille A. Carver College of Medicine, University of IowaVincenzo Nigro - Telethon Institute of Genetics and Medicine
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.20(23), pp.4644-4654
- DOI
- 10.1093/hmg/ddr398
- PMID
- 21890494
- PMCID
- PMC3209833
- NLM abbreviation
- Hum Mol Genet
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Publisher
- Oxford University Press
- Language
- English
- Date published
- 12/01/2011
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020867102771
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