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Neuromuscular Disorders, ISSN 0960-8966, 03/2019, Volume 29, Issue 3, pp. 247 - 250
In a previous report of a new phenotype with predominant scapulo-humeral-peroneal-distal myopathy associated with the Glu197Asp mutation in , muscle biopsies... 
Congenital myopathy | ACTA1 | Nemaline rod | Distal | NEUROSCIENCES | ACTINOPATHIES | CLINICAL NEUROLOGY | Medicine, Experimental | Medical research | Genetic aspects | Muscular dystrophy
Journal Article
Cellular and Molecular Biology Letters, ISSN 1425-8153, 03/2015, Volume 20, Issue 1, pp. 160 - 176
The promoter of skeletal muscle α-actin gene (ACTA1) is highly muscle specific. The core of the bovine ACTA1 promoter extends from +29 to −233, about 262 base... 
ACTA1 | Transfection | Bovine muscle satellite cells | ACTA1 promoter | PCR site-specific mutagenesis | Cis-acting element | Muscle tissue specificity | Clone
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 05/2019, Volume 29, Issue 5, pp. 388 - 391
Actinopathy is a group of clinically and pathologically heterogeneous myopathies due to mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (... 
ACTA1 | Rimmed vacuoles | IBM | Nemaline myopathy | Congenital fiber type disproportion | Inclusion body myositis | Finger flexor weakness | DISTAL MYOPATHY | MUTATION | INCLUSION-BODY MYOSITIS | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 10/2018, Volume 393, pp. 142 - 144
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.jns.2018.08.015 
ACTA1 | Congenital fiber-type disproportion | Dilated cardiomyopathy | p.G48A | NEMALINE MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Medical colleges | Neurosciences | Genetic disorders | Electrocardiogram | Myosin | Muscles | Electrocardiography | Genetic aspects | Nucleic acids | Muscle proteins | Cardiomyopathy, Dilated | Cardiovascular agents
Journal Article
Turk pediatri arsivi, ISSN 1306-0015, 2019, Volume 54, Issue 1, p. 49
Nemaline myopathy, which is characterized by the accumulation of ''rod'' bodies in muscle fibers is a very rare inherited muscle disease. According to the... 
Journal Article
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 269 - 282
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 11/2013, Volume 22, Issue 21, pp. 4398 - 4404
Multiple congenital myopathies, including nemaline myopathy, can arise due to mutations in the ACTA1 gene encoding skeletal muscle -actin. The main... 
ALPHA-ACTIN | NEMALINE MYOPATHY | THIN-FILAMENTS | KINETICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUSCLE-FIBERS | GENETICS & HEREDITY | X-RAY-DIFFRACTION | CALCIUM ACTIVATION | SARCOMERE LENGTH | BETA-TROPOMYOSIN MUTATION | STRIATED-MUSCLE | ACTA1 gene
Journal Article
Journal of Molecular and Cellular Cardiology, ISSN 0022-2828, 2013, Volume 63, pp. 189 - 198
Journal Article