Variant: rs1553255354 

    present in Gene: ACTA1
    present in Chromosome: 1
    Position on Chromosome: 229431843
    Alleles of this Variant: C/G

rs1553255354 in ACTA1 gene and Dysmorphic features PMID 16967490 2007 Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 26507755 2015 Review of Cardiac Disease in Nemaline Myopathy.

PMID 12601110 2003 Clinical course correlates poorly with muscle pathology in nemaline myopathy.

PMID 15468086 2004 Actin mutations are one cause of congenital fibre type disproportion.

PMID 23650303 2013 Nemaline myopathy with dilated cardiomyopathy in childhood.

PMID 15236405 2004 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PMID 11333380 2001 Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PMID 25890230 2015 Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.

rs1553255354 in ACTA1 gene and Muscle hypotonia PMID 26507755 2015 Review of Cardiac Disease in Nemaline Myopathy.

PMID 11333380 2001 Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PMID 15468086 2004 Actin mutations are one cause of congenital fibre type disproportion.

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 23650303 2013 Nemaline myopathy with dilated cardiomyopathy in childhood.

PMID 25890230 2015 Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.

PMID 12601110 2003 Clinical course correlates poorly with muscle pathology in nemaline myopathy.

PMID 15236405 2004 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PMID 16967490 2007 Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.