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Neuromuscular disorders : NMD, ISSN 0960-8966, 12/2019
We describe the presentation and follow-up of a three-year-old girl with nemaline myopathy due to a de-novo variant in ACTA1 (encoding skeletal alpha actin)... 
Journal Article
Journal Article
Pediatrics International, ISSN 1328-8067, 11/2019, Volume 61, Issue 11, pp. 1169 - 1171
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
•We described a family with autosomal dominant myopathy and prominent finger flexor weakness.•The weakness pattern mimicked inclusion body myositis.•Muscle... 
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
Neuromuscular Disorders, ISSN 0960-8966, 03/2019, Volume 29, Issue 3, pp. 247 - 250
•ACTA1 with distal phenotype.•Glu197Asp mutation with nemaline rods.•Muscle biopsy with ultrastructural study. In a previous report of a new phenotype with... 
Congenital myopathy | ACTA1 | Nemaline rod | Distal | NEUROSCIENCES | ACTINOPATHIES | CLINICAL NEUROLOGY | Medicine, Experimental | Medical research | Genetic aspects | Muscular dystrophy
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 10/2018, Volume 393, pp. 142 - 144
•A congenital myopathy case carrying a novel p.G48A-ACTA1 mutation.•Histologically diagnosed as CFTD.•Accompanied by dilated cardiomyopathy. 
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
Journal of Clinical Neuroscience, ISSN 0967-5868, 07/2018, Volume 53, pp. 261 - 262
•We present an adult patient with nemaline myopathy due to a novel ACTA1 variant.•Clinical history is crucial in differentiating nemaline myopathies in... 
SLONM | ACTA1 | Nemaline myopathy | Sporadic late onset nemaline myopathy | GENE | ONSET NEMALINE MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic aspects | Adults | Genetic disorders | HIV infection
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