Mutation-specific effects on thin filament length in thin filament myopathy-Reference-Cited by-同舟云学术

Mutation-specific effects on thin filament length in thin filament myopathy

Published:2016-04-30 Issue:6 Volume:79 Page:959-969
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Winter Josine M. de¹,Joureau Barbara¹,Lee Eun-Jeong²,Kiss Balázs²,Yuen Michaela³⁴,Gupta Vandana A.⁵,Pappas Christopher T.²,Gregorio Carol C.²,Stienen Ger J. M.¹⁶,Edvardson Simon⁷,Wallgren-Pettersson Carina⁸⁹,Lehtokari Vilma-Lotta⁸⁹,Pelin Katarina⁹¹⁰,Malfatti Edoardo¹¹,Romero Norma B.¹¹,Engelen Baziel G. van¹²,Voermans Nicol C.¹²,Donkervoort Sandra¹³,Bönnemann C. G.¹³,Clarke Nigel F.³⁴,Beggs Alan H.⁵,Granzier Henk²,Ottenheijm Coen A. C.¹²

Affiliation:

1. Department of Physiology; VU University Medical Center; Amsterdam the Netherlands

2. Department of Cellular and Molecular Medicine; University of Arizona; Tucson AZ

3. Institute for Neuroscience and Muscle Research; Children's Hospital at Westmead; Westmead New South Wales Australia

4. Discipline of Paediatrics and Child Health; University of Sydney; Sydney New South Wales Australia

5. Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital; Harvard Medical School; Boston MA

6. Department of Physics and Astronomy; VU University; Amsterdam the Netherlands

7. Pediatric Neurology Unit; Hadassah University Hospital; Jerusalem Israel

8. Department of Medical and Clinical Genetics, Haartman Institute; University of Helsinki; Helsinki Finland

9. Folkhaelsan Institute of Genetics; Biomedicum Helsinki; Helsinki Finland

10. Division of Genetics, Department of Biosciences; University of Helsinki; Helsinki Finland

11. Center for Research in Myology; Pitié-Salpêtrière Hospital Group; Paris France

12. Department of Neurology; Radboud University Medical Center; Nijmegen the Netherlands

13. Neuromuscular and Neurogenetic Disorders of Childhood Section; National Institutes of Health; Bethesda MD

Funder

EU-FP7-IRSES SarcoSi

NWO-VIDI

NIH

NIH National Institute of Child Health and Human Development

A Foundation Building Strength

AUism Charitable Foundation

NIH National Institute of Arthritis and Musculoskeletal and Skin Diseases

Charles H. Hood Foundation

University of Sydney

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference37 articles.

1. Congenital myopathies: natural history of a large pediatric cohort;Colombo;Neurology,2015

2. Clinical and genetic heterogeneity in nemaline myopathy-a disease of skeletal muscle thin filaments;Sanoudou;Trends Mol Med,2001

3. Dominant mutations in KBTBD13, a member of the BTB/kelch family, cause nemaline myopathy with cores;Sambuughin;Am J Hum Genet,2010

4. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy;Ravenscroft;Am J Hum Genet,2013

5. Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy;Gupta;Am J Hum Genet,2013

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