Gene: ACTA1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.080 GeneticVariation phenotype BEFREE We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val). 29731279 2018
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.080 GeneticVariation phenotype BEFREE The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood. 29328520 2018
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.080 GeneticVariation phenotype BEFREE We conclude that mutations in ACTA1 can cause pathologic features consistent with myofibrillar myopathy, and mutations in ACTA1 should be considered in patients with severe congenital hypotonia associated with muscle weakness and features of myofibrillar myopathy. 25913210 2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.080 GeneticVariation phenotype BEFREE Tg(ACTA1)(Asp286Gly) mice showed a mild muscle weakness as illustrated by the reduction of both absolute (30%) and specific (15%) maximal force production. 23977274 2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.080 GeneticVariation phenotype BEFREE The main characteristics of ACTA1 null mutations (absence of skeletal muscle α-actin) are generalized skeletal muscle weakness and premature death. 23784376 2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.080 GeneticVariation phenotype BEFREE Despite extensive research into normal actin function and the functional consequences of ACTA1 mutations in cell culture, animal models and patient tissue, the mechanisms underlying muscle weakness and the formation of structural lesions remains largely unknown. 22825594 2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.080 Biomarker phenotype BEFREE In addition to a new ACTA1 gene mutation, our case emphasizes the genetic heterogeneity of cap myopathy and its association with ACTA1 gene as well as the importance of repeat muscle biopsy in patients with undiagnosed muscle weakness. 20303757 2010
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.080 GeneticVariation phenotype BEFREE Mutations at Val163 in ACTA1 result in pure intranuclear rod myopathy; however, the molecular mechanisms by which mutations at Val163 lead to intranuclear rod formation and muscle weakness are unknown. 17705262 2007