MYO-SEQ

MYO-SEQ

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  • About
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    • Congenital Muscular Dystrophy, Congenital Myopathy and Congenital Myasthenic Syndrome
    • LGMD2A
    • LGMD2B
    • LGMD2C
    • LGMD2D
    • LGMD2I
    • Pompe Disease
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Home Mission Statement

Mission Statement

MYO-SEQ applies whole exome sequencing in a large cohort of patients with unexplained limb‐girdle weakness. The major objectives of the project are:

  • to contribute to the diagnostic pathway for patients affected by known forms of limb girdle muscular dystrophy
  • to contribute to the improvement of the diagnostic awareness of rare neuromuscular diseases among physicians
  • to speed up the integration of next-generation sequencing technologies into healthcare

The focus on undiagnosed patients with a defined clinical phenotype enables increased diagnostic rates for disease causing mutations in known genes in this cohort. Whole exome sequencing also provides scope both for new gene discovery and for additional research into disease modifiers and genotype‐phenotype correlations

About the project

  • About the project
    • Mission statement
    • Inclusion Criteria

John Walton Muscular Dystrophy Research Centre
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE1 3BZ
United Kingdom

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