Condition: MYOPATHY, DISTAL, 4


rs1114167361 in FLNC gene and MYOPATHY, DISTAL, 4 PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 27908349 2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

PMID 21620354 2011 Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

PMID 25633252 2014 Prioritizing causal disease genes using unbiased genomic features.

rs1554401581 in FLNC;FLNC-AS1 gene and MYOPATHY, DISTAL, 4 PMID 28008423 2016 FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.

PMID 27908349 2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.