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Letter
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

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  • Contributors RWO contributed to the drafting and revision of the manuscript and for its content, study concept and design, analysis and interpretation of data and performed the molecular analysis of the patient. AAlS was the clinician in charge of the patient, led the initial investigations and clinical analysis into the patient and oversaw the review of the clinical information on the patient. DS performed pathology analysis for the patient, contributed to writing the pathology section of the manuscript and interpretation of histological data. AA contributed to the drafting and revision of the manuscript, drafting/revising the manuscript for content and analysis or interpretation of data. KSY developed the next generation sequencing analysis pipeline and contributed to drafting/revising the manuscript for content. GR performed the molecular analysis of the patient, contributed to drafting the manuscript, drafting/revising the manuscript for content and analysis and/or interpretation of data. RMD assisted in conceptualising the study and contributed to drafting/revising the manuscript for content. VA was responsible for performing next generation sequencing of patient's DNA and contributed to drafting/revising the manuscript for content. RJA oversaw the process of next generation sequencing and contributed to drafting/revising the manuscript for content. NGL conceptualised the study, had overall responsibility for coordinating the study, assisted with drafting and revision of the manuscript and analysis of data, drafting/revising the manuscript for content, including medical writing for content, study concept or design, analysis or interpretation of data.

  • Funding This research was supported by the National Health and Medical Research Council of Australia (Fellowships APP1035955 to GR and APP1002147 to NGL, and project grant APP1022707 to NGL).

  • Competing interests None.

  • Ethics approval The University of Western Australia.

  • Provenance and peer review Not commissioned; externally peer reviewed.