Mutations in the DNAJB4 causing a novel rare neuromuscular disorder

Last updated 13th Jan 2020
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CURATOR

A pinboard by Magdalena Mroczek

Research assistant, The John Walton Muscular Dystrophy Research Centre

PINBOARD SUMMARY

Novel neuromuscular disease manifesting with respiratory insufficiency and stiff spine

Limb-girdle muscular dystrophies (LGMD) are rare and heterogeneous group of neuromuscular disorders with more than 30 genes currently associated with them. Different subtypes of LGMD vary in terms ...