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Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies
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Orientador(es)
Resumo(s)
Introduction: A meeting of 29 senior scientists from Europe, the USA, India
and Australia, was held in Naarden, The Netherlands on November
14–16, 2008, to establish consensus Best Practice Guidelines for
molecular diagnosis of Duchenne and Becker muscular dystrophy
(DMD/BMD). New therapeutic trials for DMD demand accurate
diagnosis of the disorder, especially where the therapy is targeted
towards specific mutations. These guidelines aim to help diagnostic
laboratories attain that accuracy by describing the minimum
standards for acceptable molecular diagnostic testing of DMD.
For the different types of clinical referral received by a molecular
diagnostic laboratory, the guidelines recommend the appropriate
tests to be carried out, interpretation of the results and how those
results should be reported.
Descrição
Meeting participants: Rosário dos Santos, Porto, Portugal
Palavras-chave
Best Practice Guidelines Duchenne/Becker Muscular Dystrophies Doenças Genéticas Molecular Diagnostics
Contexto Educativo
Citação
Neuromuscul Disord. 2010 Jun;20(6):422-7. doi: 10.1016/j.nmd.2010.04.005. Epub 2010 May 13.
Editora
Elsevier/World Muscle Society