Mots-clés
 > MYOBASE > SANTE > médecine > maladie > maladie par appareil > maladie de l'appareil locomoteur > maladie neuromusculaire > maladie neuromusculaire par protéine > actine (maladie neuromusculaire liée à) > alpha-actine (maladie neuromusculaire liée à)
alpha-actine (maladie neuromusculaire liée à)
Commentaire :
L'actine est une protéine de la fibre musculaire (filaments fins).
Sources : Principales maladies neuromusculaires, octobre 2011, Fiche Technique Savoir et Comprendre, AFM Avancées médico-scientifiques neuromusculaires, juin 2011, Fiche Technique Savoir et Comprendre, AFM Synonyme(s)actin related disease ;actin disorder ;maladie liée à l'actine ;actinopathy actinopathieVoir aussi |
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Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)
Joureau B, de Winter JM, Conijn S, et al.
Annals of neurology, 2018, 83, 2, p 269
Modulating myosin restores muscle function in a mouse model of nemaline myopathy
Lindqvist J, Levy Y, Pati-Alam A, et al.
Annals of neurology, 2016, 79, 5, p 717
Neuropathologic Characterization of INF2-Related Charcot-Marie-Tooth Disease: Evidence for a Schwann Cell Actinopathy.
Mathis S, Funalot B, Boyer O, et al.
Journal of neuropathology and experimental neurology, 2014, 73, 3, p. 223-233
Skeletal muscle alpha-actin diseases (actinopathies) : pathology and mechanisms
Nowak KJ, Ravenscroft G, Laing NG
Acta neuropathologica, 2013, 125, 1, p. 19-32
Congenital myopathies
Romero NB, Clarke NF
Handbook of Clinical Neurology (Pediatric Neurology), 2013, 113, p 1321
Nemaline myopathy caused by absence of of alpha-skeletal muscle actin
Nowak KJ, Sewry CA, Navarro C, et al.
Annals of neurology, 2007, 61, 2, p 175
The pathogenesis of ACTA1-related congenital fiber type disproportion
Clarke NF, Ilkovski B, Cooper ST, et al.
Annals of neurology, 2007, 61, 61, p. 552-561
Muscle myostatin expression in children with muscle diseases
Castro-Gago M, Gomez-Lado C, Eiris-Punal J, et al.
Journal of child neurology, 2007, 22, 1, p. 38-40
Variable presentation of nemaline myopathy : novel mutation of alpha actin gene
Bouldin AA, Parisi MA, Laing N, et al.
Muscle & Nerve, 2007, 35, 2, p. 254-258
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H)
Koy A, Ilkovski B, Laing N, et al.
Neuropediatrics, 2007, 38, p. 282-286
Intranuclear nemaline rod myopathy
Kaimaktchiev V, Goebel H, Laing N, et al.
Muscle & Nerve, 2006, 34, 3, p. 369-372
138th ENMC Workshop : nemaline myopathy
Collectif, Laing NG
Neuromuscular disorders : NMD, 2006, 16, 1, p. 54-60
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene : clinical and pathological variability within a kindred
Hutchinson DO, Charlton A, Laing NG, et al.
Neuromuscular disorders : NMD, 2006, 16, 2, p. 113-121
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
Wallefeld W, Krause S, Nowak KJ, et al.
Neuromuscular disorders : NMD, 2006, 16, 9-10, p. 541-547
An actin-EGFP transgenic mouse model of nemaline myopathy (abstract : congrès international de Myologie, 2005)
Nowak K, Sewry C, Potter A, et al.
Congrès : Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France)
2005, p. 161
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations
Agrawal PB, Strickland CD, Midgett C, et al.
Annals of neurology, 2004, 56, 1, p. 86-96
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn)
Schröder JM, Durling HJ, Laing N
Acta neuropathologica, 2004, 108, 3, p. 250-256
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1)
Ohlsson M, Tajsharghi H, Darin N, et al.
Neuromuscular disorders : NMD, 2004, 14, 8-9, p. 471-475
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
Wallgren-Pettersson C, Pelin K, Nowak KJ, et al.
ENMC International Consortium on Nemaline Myopathy
Neuromuscular disorders : NMD, 2004, 14, 8-9, p 461
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
Sparrow JC, Nowak KJ, Durling HJ, et al.
Neuromuscular disorders : NMD, 2003, 13, 7-8, p. 519-531
Clinical course correlates poorly with muscle pathology in nemaline myopathy
Ryan MM, Ilkowski B, Strickland CD, et al.
Neurology, 2003, 60, 4, p. 665-673
