Journal article

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Vilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer A Frey, Kati Donner, Minttu Marttila, Carol Saunders, Peter G Barth, Johan T den Dunnen, Alan H Beggs, Nigel F Clarke, Kathryn N North, Nigel G Laing, Norma B Romero, Thomas L Winder, Katarina Pelin, Carina Wallgren-Pettersson

HUMAN MUTATION | WILEY-BLACKWELL | Published : 2014

Abstract

A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons containing gene. Recessive pathogenic variants in NEB are the major cause of nemaline myopathy (NM), one of the most common congenital myopathies. Moreover, pathogenic NEB variants have been identified in core-rod myopathy and in distal myopathies. In this update, we present the disease-causing variants in NEB in 159 families, 143 families with NM, and 16 families with NM-related myopathies. Eighty-eig..

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Grants

Awarded by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIH)


Awarded by Muscular Dystrophy Association (USA)


Awarded by NHMRC of Australia


Awarded by Australian National Health and Medical Research Council (NHMRC)


Awarded by NHMRC EU


Awarded by NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES


Funding Acknowledgements

Contract grant sponsors: Association Francaise contre les Myopathies; Sigrid Juselius Foundation; Academy of Finland; Finska Lakaresallskapet; Medicinska understodsforeningen Livoch Halsa r.f; National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIH grant R01 AR044345); Muscular Dystrophy Association (USA; MDA201302); NHMRC of Australia (APP1035828, APP1026933); Foundation for Building Strength for Nemaline Myopathy; Australian National Health and Medical Research Council (NH&MRC) Fellowship (APP1002147); NH&MRC EU Collaborative Grant APP1055295.