Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy-Reference-Cited by-同舟云学术

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Published:2013-12 Issue:6 Volume:93 Page:1108-1117
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Gupta Vandana A.,Ravenscroft Gianina,Shaheen Ranad,Todd Emily J.,Swanson Lindsay C.,Shiina Masaaki,Ogata Kazuhiro,Hsu Cynthia,Clarke Nigel F.,Darras Basil T.,Farrar Michelle A.,Hashem Amal,Manton Nicholas D.,Muntoni Francesco,North Kathryn N.,Sandaradura Sarah A.,Nishino Ichizo,Hayashi Yukiko K.,Sewry Caroline A.,Thompson Elizabeth M.,Yau Kyle S.,Brownstein Catherine A.,Yu Timothy W.,Allcock Richard J.N.,Davis Mark R.,Wallgren-Pettersson Carina,Matsumoto Naomichi,Alkuraya Fowzan S.,Laing Nigel G.,Beggs Alan H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference34 articles.

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4. Pathological defects in congenital myopathies;Sewry;J. Muscle Res. Cell Motil.,2008

5. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred;Hutchinson;Neuromuscul. Disord.,2006

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