The UMD-DYSF Locus Specific Database has been compiled to provide up-to-date information about mutations of the DYSF gene. It aims at making the information readily accessible to anyone interested in the genetic variations of the DYSF gene, and to provide an easy way for those who investigate these variations to report their most recent findings. UMD-DYSF includes interactive analysis of disease-causing mutation statistics and distribution, and bioinformatics tools for the interpretation of novel variants.
UMD-DYSF v.1.4 (June,16th 2015)
• Documentation on the DYSF gene (gene characteristics, sequence, exonic organisation and orthologues) can be accessed through "The gene" page.
• Documentation on the dysferlin protein (structural organisation, tissue distribution, functional roles, dysferlin-interacting proteins or mice models for dysferlinopathies) can be accessed through "The protein" page.
• Clinical characteristics of dysferlinopathies are summarised on "The clinics" page.
• The Mutations page describes key UMD tools and proposes search tools.
• Additional UMD tools are available on the "Statistics" page.
• All references entered in UMD-DYSF can be accessed from the "References" page.
Martin KRAHN: Département de Génétique Médicale, Hôpital d’Enfants de la Timone, Assistance Publique-Hôpitaux de Marseille, and Inserm/Aix-Marseille Université UMR_S910, Faculté de Médecine, Marseille, France.
In this current version, UMD-DYSF is a Locus Specific Database compiling disease-causing mutations of the DYSF gene. The database will be further developed to reach the status of a patient registry according to the guidelines of TREAT-NMD.
• The Leiden Muscular Dystrophy page for dysferlin.
• The "A to Z of Dysferlin" page on the Jain Foundation site.
We thank Jon Andoni Urtizberea (Hôpital Marin, APHP, Hendaye, France) for clinical information.
We thank Bradley Williams and Nilah Monnier from the Jain Foundation for documentation.
The UMD-DYSF Locus Specific Database constitutes the intellectual property of the curators of the database. Any unauthorized copying, storage or distribution of this material without written permission from the curators would lead to copyright infringement with possible ensuing litigation.
For further details, please refer to Directive 96/9/EC of the European Parliament and of the Council of March,11 1996 on the legal protection of databases.