t/gene-acta1

ACTA1 gene

Discuss publications and research concerning the ACTA1 gene.

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Related literature

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.
ACTA1
Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype.
ACTA1
Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility.
ACTA1
Congenital myopathies: pathophysiological mechanisms and promising therapies.
ACTA1
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.
ACTA1
A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.
ACTA1
Proteome changes of beef in Nellore cattle with different genotypes for tenderness.
ACTA1
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
ACTA1
New aspects of myofibrillar myopathies.
ACTA1
[Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].
ACTA1

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