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Functional effects of mutations identified in patients with multiminicore disease.

Zorzato, Francesco and Jungbluth, Heinz and Zhou, Haiyan and Muntoni, Francesco and Treves, Susan. (2007) Functional effects of mutations identified in patients with multiminicore disease. IUBMB Life, 59 (1). pp. 14-20.

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Official URL: http://edoc.unibas.ch/45310/

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Abstract

Multiminicore disease is a recessive congenital myopathy characterized by the presence of small cores or areas lacking oxidative enzymes, in skeletal muscle fibres. From a clinical point of view, the condition is widely heterogeneous and at least four phenotypes have been identified; genetic analysis has revealed that most patients with the classical form of multiminicore characterized by rigidity of the spine, early onset and respiratory impairment harbour recessive mutations in the SEPN1 gene, whereas the majority of patients belonging to the other categories, including patients with ophthalmoplegia or patients with a phenotype similar to central core disease, carry recessive mutations in the RYR1. In the present review we discuss the most recent findings on the functional effect of mutations in SEPN1 and RYR1 and discuss how they may adversely affect muscle function and lead to the clinical phenotype.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Perioperative Patient Safety (Girard/Treves)
UniBasel Contributors:Treves, Susan
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Wiley
ISSN:1521-6543
Note:Publication type according to Uni Basel Research Database: Journal article
Language:English
Identification Number:
Last Modified:03 Jan 2017 12:51
Deposited On:20 Dec 2016 13:54

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