Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy-Reference-Cited by-同舟云学术

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Published:2011-06 Issue:6 Volume:88 Page:729-740
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Duff Rachael M.,Tay Valerie,Hackman Peter,Ravenscroft Gianina,McLean Catriona,Kennedy Paul,Steinbach Alina,Schöffler Wiebke,van der Ven Peter F.M.,Fürst Dieter O.,Song Jaeguen,Djinović-Carugo Kristina,Penttilä Sini,Raheem Olayinka,Reardon Katrina,Malandrini Alessandro,Gambelli Simona,Villanova Marcello,Nowak Kristen J.,Williams David R.,Landers John E.,Brown Robert H.,Udd Bjarne,Laing Nigel G.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference58 articles.

1. Molecular biology of distal muscular dystrophies—sarcomeric proteins on top;Udd;Biochim. Biophys. Acta,2007

2. 165th ENMC International Workshop: Distal myopathies 6-8th February 2009 Naarden, The Netherlands;Udd;Neuromuscul. Disord.,2009

3. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin;Hackman;Am. J. Hum. Genet.,2002

4. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1);Meredith;Am. J. Hum. Genet.,2004

5. Zaspopathy in a large classic late-onset distal myopathy family;Griggs;Brain,2007

Cited by 122 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Flnc expression impacts mitochondrial function, autophagy, and calcium handling in C2C12 cells;Experimental Cell Research;2024-09

2. Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies;Neurology;2024-08-27

3. Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts;J GENET GENOMICS;2024

4. The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability;Biomedicines;2024-01-30

5. Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain;Biochemical and Biophysical Research Communications;2023-08