Actin-Accumulation Myopathy

Congenital myopathy caused by mutations in the ACTA1 gene that presents with a variety of clinical and cytological phenotypes. They generally include weakness of the proximal muscles, with involvement of the facial, bulbar, and respiratory muscles. Age of onset and severity also vary; OMIM: 161800

Also Known As:

Actin Filament Aggregate Myopathy; Actin Myopathy; Congenital Myopathy with Excess of Thin Filaments; Myopathy, Actin, Congenital, With Cores; Nemaline Myopathy 3, With Intranuclear Rods; Nemaline myopathy 3; Nemaline myopathy caused by mutation in the alpha-actin gene

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Nemaline Myopathies (Nemaline Myopathy)
2.	Muscular Diseases (Myopathy)
3.	Intranuclear Rod Myopathy

Experts

1.	Durling, H: 1 article (09/2004)
2.	Laing, N: 1 article (09/2004)
3.	Schröder, J M: 1 article (09/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Actin-Accumulation Myopathy:

1.	Actins (F Actin)IBA 10/01/1999 - "Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy." 09/01/2004 - "Mutations in the skeletal muscle alpha-actin gene ( ACTA1) are associated by and large with three muscle diseases (1) congenital actin myopathy, (2) nemaline myopathy, and (3) intranuclear rod myopathy. " 10/01/1999 - "Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy. "
2.	NucleotidesIBA 01/01/2022 - "The α-actin mutation G15R in the nucleotide-binding pocket of skeletal muscle, causes severe actin myopathy in human skeletal muscles. "