KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy-Reference-Cited by-同舟云学术

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Published:2014-06-24 Issue:8 Volume:124 Page:3529-3539
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Garg Ankit,O’Rourke Jason,Long Chengzu,Doering Jonathan,Ravenscroft Gianina,Bezprozvannaya Svetlana,Nelson Benjamin R.,Beetz Nadine,Li Lin,Chen She,Laing Nigel G.,Grange Robert W.,Bassel-Duby Rhonda,Olson Eric N.

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference62 articles.

1. Nemaline Myopathies

2. Nemaline myopathy: Comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms

3. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

4. Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

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