Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

Muscle and Nerve

Volumn 53, Issue 3, 2016, Pages 388-393

  Witting, Nanna ^a   Werlauff, Ulla ^b   Duno, Morten ^c   Vissing, John ^a  

^a Rigshospitalet   (Denmark)

^b The Danish National Rehabilitation Center for Neuromuscular Diseases   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

ACTA1; Congenital myopathy; Nemaline myopathy; Phenotype; Prevalence

Indexed keywords

ALPHA ACTIN; ALPHA ACTIN 1; UNCLASSIFIED DRUG; ACTIN; CREATINE KINASE;

ACHILLES TENDON; ADOLESCENT; ADULT; AIRWAY PRESSURE; ARTICLE; BREECH PRESENTATION; CESAREAN SECTION; CHILD; COHORT ANALYSIS; CONGENITAL DISORDER; CONGENITAL MYOPATHY; CONSTIPATION; COUGHING; DYSPHAGIA; EXTENSOR MUSCLE; FEMALE; FLEXOR MUSCLE; GENE MUTATION; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYALGIA; MYOPATHY; NEMALINE MYOPATHY; PATHOGENICITY; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SLURRED SPEECH; URINARY TRACT INFECTION; VITAL CAPACITY; YOUNG ADULT; BLOOD; DENMARK; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION; MYOTONIA CONGENITA; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE;

ACTINS; ADOLESCENT; CHILD; CREATINE KINASE; DENMARK; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; MYOTONIA CONGENITA; PHENOTYPE; PREVALENCE; YOUNG ADULT;

EID: 84956788647     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24765     Document Type: Article

References (17)

1. Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, et al. Congenital myopathies-clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord 2013;23:195-205.
2. Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23:208-212.
3. Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 2003;13:519-531.
4. Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, et al. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 2009;30:1267-1277.
5. Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord 2010;20:238-240.
6. Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN. 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 2006;16:113-121.
7. Kaindl AM, Ruschendorf F, Krause S, Goebel HH, Koehler K, Becker C, et al. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 2004;41:842-848.
8. Koy A, Ilkovski B, Laing N, North K, Weis J, Neuen-Jacob E, et al. Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). Neuropediatrics 2007;38:282-286.
9. Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, et al. Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol 2004;56:689-694.
10. Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001;50:312-320.
11. Goez H, Sira LB, Jossiphov J, Borochowitz Z, Durling H, Laing NG, et al. Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene. J Child Neurol 2005;20:236-239.
12. Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromuscul Disord 2001;11:35-40.
13. Levesque L, Del Bigio MR, Krawitz S, Mhanni AA. A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations. Neuromuscul Disord 2013;23:239-242.
14. Graziano C, Bertini E, Minetti C, Porfirio B. Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy. Int J Mol Med 2004;13:805-809.
15. Berard C, Payan C, Hodgkinson I, Fermanian J. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord 2005;15:463-470.
16. Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. Am J Hum Genet 2001;68:1333-1343.
17. Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, et al. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol 2004;56:86-96.