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Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations

Lookup NU author(s): Dr Katherine JohnsonORCiD, Dr Marta Bertoli, Lauren Phillips, Dr Ana TopfORCiD, Professor Volker StraubORCiD


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Publication metadata

Author(s): Johnson K, Bertoli M, Phillips L, Töpf A, Claeys K, Stojanovic VR, Perić S, Vissing J, Hahn A, Maddison P, Akay E, Bastian A, Łusakowska A, Lek M, Xu L, MacArthur D, Straub V

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: 21st International Congress of the World Muscle Society

Year of Conference: 2016

Pages: S108-S109

Print publication date: 01/10/2016

Online publication date: 09/09/2016

Acceptance date: 17/05/2016

ISSN: 0960-8966

Publisher: Elsevier


DOI: 10.1016/j.nmd.2016.06.086

Series Title: Neuromuscular Disorders