Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

Agrawal, 2004, Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations, Ann Neurol, 56, 86, 10.1002/ana.20157

Agrawal, 2007, Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2, Am J Hum Genet, 80, 162, 10.1086/510402

Barohn, 1994, Neonatal nemaline myopathy with abundant intranuclear rods, Neuromuscul Disord, 4, 513, 10.1016/0960-8966(94)90092-2

Bornemann, 1996, Fatal congenital myopathy with actin filament deposits, Acta Neuropathol, 92, 104, 10.1007/s004010050496

Bouldin, 2007, Variable presentation of nemaline myopathy: novel mutation of alpha actin gene, Muscle Nerve, 35, 254, 10.1002/mus.20662

Buxmann, 2001, Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report, Neuropediatrics, 32, 267, 10.1055/s-2001-19122

Clarke, 2003, Congenital fiber type disproportion—30 years on, J Neuropathol Exp Neurol, 62, 977, 10.1093/jnen/62.10.977

Clarke, 2006, SEPN1: associated with congenital fiber-type disproportion and insulin resistance, Ann Neurol, 59, 546, 10.1002/ana.20761

Clarke, 2007, The pathogenesis of ACTA1-related congenital fiber type disproportion, Ann Neurol, 61, 552, 10.1002/ana.21112

Clarke, 2008, Mutations in TPM3 are a common cause of congenital fiber type disproportion, Ann Neurol, 63, 329, 10.1002/ana.21308

Conen, 1963, Light and electron microscopic studies of “myogranules” in a child with hypotonia and muscle weakness, Can Med Assoc J, 89, 983

Costa, 2004, Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects, J Cell Sci, 117, 3367, 10.1242/jcs.01172

Craig, 2004, Myology, basic and clinical, 129

Crawford, 2002, Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period, Mol Cell Biol, 22, 5887, 10.1128/MCB.22.16.5887-5896.2002

D'Amico, 2006, Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation, Neuromuscul Disord, 16, 548, 10.1016/j.nmd.2006.07.005

Domazetovska, 2007, Mechanisms underlying intranuclear rod formation, Brain, 130, 3275, 10.1093/brain/awm247

Domazetovska, 2007, Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness, Ann Neurol, 62, 597, 10.1002/ana.21200

Donner, 2002, Mutations in the β-tropomyosin (TPM2) gene—a rare cause of nemaline myopathy, Neuromuscul Disord, 12, 151, 10.1016/S0960-8966(01)00252-8

Fananapazir, 1993, Missense mutations in the β-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy, Proc Natl Acad Sci USA, 90, 3993, 10.1073/pnas.90.9.3993

Feng, 2009, Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies, Neuromuscul Disord, 19, 6, 10.1016/j.nmd.2008.09.005

Ferreiro, 2002, Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies, Am J Hum Genet, 71, 739, 10.1086/342719

Goebel, 1997, Congenital myopathy with excess of thin myofilaments, Neuromuscul Disord, 7, 160, 10.1016/S0960-8966(97)00441-0

Goebel, 2004, Actin-related myopathy without any missense mutation in the ACTA1 gene, J Child Neurol, 19, 149, 10.1177/08830738040190021201

Goebel, 2006, Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy, J Child Neurol, 21, 545, 10.1177/08830738060210060302

Graziano, 2004, Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy, Int J Mol Med, 13, 805

Graziano, 2005, De novo alpha-actin mutations in monozygotic twins, Clin Genet, 68, 91, 10.1111/j.1399-0004.2005.00442.x

Guo, 2007, Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections, Nat Genet, 39, 1488, 10.1038/ng.2007.6

Hutchinson, 2006, Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred, Neuromuscul Disord, 16, 113, 10.1016/j.nmd.2005.11.004

Ilkovski, 2001, Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene, Am J Hum Genet, 68, 1333, 10.1086/320605

Ilkovski, 2004, Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms, Hum Mol Genet, 13, 1727, 10.1093/hmg/ddh185

Ilkovski, 2005, Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy, Neuromuscul Disord, 15, 829, 10.1016/j.nmd.2005.08.004

Jaeger, Context-dependent functional substitution of {alpha}-skeletal actin by {gamma}-cytoplasmic actin, FASEB J

Jeannet, 2007, Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci, Neuromuscul Disord, 17, 6, 10.1016/j.nmd.2006.10.005

Jenis, 1969, New congenital myopathy with crystalline intranuclear inclusions, Arch Neurol, 20, 281, 10.1001/archneur.1969.00480090069011

Johnston, 2000, A novel nemaline myopathy in the Amish caused by a mutation in troponin T1, Am J Hum Genet, 67, 814, 10.1086/303089

Jungbluth, 2001, Mild phenotype of nemaline myopathy with sleep hypoventilation due to mutation in the skeletal muscle a-actin (ACTA1) gene, Neuromuscular Disord, 11, 35, 10.1016/S0960-8966(00)00167-X

Kaimaktchiev, 2006, Intranuclear nemaline rod myopathy, Muscle Nerve, 34, 369, 10.1002/mus.20521

Kaindl, 2004, Missense mutations of ACTA1 cause dominant congenital myopathy with cores, J Med Genet, 41, 842, 10.1136/jmg.2004.020271

Koy, 2007, Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H), Neuropediatrics, 38, 282, 10.1055/s-2008-1065356

Laing, 1995, A mutation in the a-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy, Nat Genet, 9, 75, 10.1038/ng0195-75

Laing, 2004, Actin mutations are one cause of congenital fibre type disproportion, Ann Neurol, 56, 689, 10.1002/ana.20260

Laing, 2005, When contractile proteins go bad: the sarcomere and skeletal muscle disease, Bioessays, 27, 809, 10.1002/bies.20269

Mayosi, 1999, Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy, J Med Genet, 36, 796, 10.1136/jmg.36.10.796

Monnier, 2000, An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor, Hum Mol Genet, 9, 2599, 10.1093/hmg/9.18.2599

Monnier, 2009, Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy, Neuromuscul Disord, 19, 118, 10.1016/j.nmd.2008.11.009

Moss, 1996, The myogenic regulatory factor MRF4 represses the cardiac alpha-actin promoter through a negative-acting N-terminal protein domain, J Biol Chem, 271, 31688, 10.1074/jbc.271.49.31688

Nguyen, 2008, The sarcomere and skeletal muscle disease, 66, 10.1007/978-0-387-84847-1_6

North, 2004, Myology, 1473

North, 1997, Nemaline myopathy: current concepts, J Med Genet, 34, 705, 10.1136/jmg.34.9.705

Nowak, 1999, Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy, Nat Genet, 23, 208, 10.1038/13837

Nowak, 2007, Nemaline myopathy caused by absence of alpha-skeletal muscle actin, Ann Neurol, 61, 175, 10.1002/ana.21035

Nowak, 2008, The sarcomere and skeletal muscle disease, 207, 10.1007/978-0-387-84847-1_15

Nowak, 2009, Rescue of skeletal muscle α-actin null mice by cardiac (fetal) α-actin, J Cell Biol, 185, 903, 10.1083/jcb.200812132

Nunoi, 1999, A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection, Proc Natl Acad Sci USA, 96, 8693, 10.1073/pnas.96.15.8693

Ohlsson, 2004, Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1), Neuromuscul Disord, 14, 471, 10.1016/j.nmd.2004.05.016

Olson, 1998, Actin mutations in dilated cardiomyopathy, a heritable form of heart failure, Science, 280, 750, 10.1126/science.280.5364.750

Olson, 2000, Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy, J Mol Cell Cardiol, 32, 1687, 10.1006/jmcc.2000.1204

Pelin, 1999, Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy, Proc Natl Acad Sci USA, 96, 2305, 10.1073/pnas.96.5.2305

Pelin, 2002, Nebulin mutations in autosomal recessive nemaline myopathy: an update, Neuromuscul Disord, 12, 680, 10.1016/S0960-8966(02)00066-4

Procaccio, 2006, A mutation of beta-actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia, Am J Hum Genet, 78, 947, 10.1086/504271

Ravenscroft, 2008, Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases—quantification of striated alpha-actins by MRM-mass spectrometry, Neuromuscul Disord, 18, 953, 10.1016/j.nmd.2008.09.010

Robinson, 2006, Mutations in RYR1 in malignant hyperthermia and central core disease, Hum Mutat, 27, 977, 10.1002/humu.20356

Ryan, 2001, Nemaline myopathy: a clinical study of 143 cases, Ann Neurol, 50, 312, 10.1002/ana.1080

Ryan, 2003, Clinical course correlates poorly with muscle pathology in nemaline myopathy, Neurology, 60, 665, 10.1212/01.WNL.0000046585.81304.BC

Ryan, 2008, Dietary L-tyrosine supplementation in nemaline myopathy, J Child Neurol, 23, 609, 10.1177/0883073807309794

Scacheri, 2000, A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy, Neurology, 55, 1689, 10.1212/WNL.55.11.1689

Schnell, 2000, “An artefact gone awry”: identification of the first case of nemaline myopathy by Dr R.D.K. Reye, Neuromuscul Disord, 10, 307, 10.1016/S0960-8966(99)00123-6

Schroder, 2004, Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn), Acta Neuropathol, 108, 250, 10.1007/s00401-004-0888-1

Sheterline, 1998, Actin

Shy, 1963, Nemaline myopathy: a new congenital myopathy, Brain, 86, 793, 10.1093/brain/86.4.793

Sparrow, 2003, Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1), Neuromuscul Disord, 13, 519, 10.1016/S0960-8966(03)00101-9

Tan, 1999, Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe infantile nemaline myopathy, Neuromuscul Disord, 9, 573, 10.1016/S0960-8966(99)00053-X

Taylor, 1988, Nucleotide sequence and expression of the human skeletal α-actin gene: evolution of functional regulatory domains, Genomics, 3, 323, 10.1016/0888-7543(88)90123-1

Tondeleir, Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models, Cell Motil Cytoskeleton

van Wijk, 2003, A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26), J Med Genet, 40, 879, 10.1136/jmg.40.12.879

Vandekerckhove, 1978, At least six different actins are expressed in a higher mammal: an analysis based on the amino acid sequence of the amino-terminal tryptic peptide, J Mol Biol, 126, 783, 10.1016/0022-2836(78)90020-7

Vandekerckhove, 1986, Simultaneous expression of skeletal muscle and heart actin proteins in various striated muscle tissues and cells. A quantitative determination of the two actin isoforms, J Biol Chem, 261, 1838, 10.1016/S0021-9258(17)36017-9

Voermans, 2008, Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant, Neurology, 71, 532, 10.1212/01.wnl.0000310814.54623.6f

Wallefeld, 2006, Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1), Neuromuscul Disord, 16, 541, 10.1016/j.nmd.2006.07.018

Wallgren-Pettersson, 2000, Report of the 70th ENMC International Workshop: nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands, Neuromuscul Disord, 10, 299, 10.1016/S0960-8966(99)00129-7

Wallgren-Pettersson, 2001, Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22–24 September 2000, Naarden, The Netherlands, Neuromuscul Disord, 11, 589, 10.1016/S0960-8966(01)00208-5

Wallgren-Pettersson, 2002, Mutations in the nebulin gene can cause severe congenital nemaline myopathy, Neuromuscul Disord, 12, 674, 10.1016/S0960-8966(02)00065-2

Wallgren-Pettersson, 2004, 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders—congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II), 4–6 April 2003, Naarden, The Netherlands, Neuromuscul Disord, 14, 56, 10.1016/j.nmd.2003.09.003

Wallgren-Pettersson, 2004, Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin, Neuromuscul Disord, 14, 461, 10.1016/j.nmd.2004.03.006

Wattanasirichaigoon, 2002, Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy, Neurology, 59, 613, 10.1212/WNL.59.4.613

Weeks, 2003, Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy, Ultrastruct Pathol, 27, 151, 10.1080/01913120309933

Wildeman, 2008, Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker, Hum Mutat, 29, 6, 10.1002/humu.20654

Zhu, 2003, Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26), Am J Hum Genet, 73, 1082, 10.1086/379286