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disproportion de taille et de type des fibres musculairesSynonyme(s)muscle fiber type and size disproportion |
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Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2
Hernandez-Lain A, Esteban-Perez J, Montenegro DC, et al.
Muscle & Nerve, 2017, 55, 2, p E8
Myopathology in Congenital Myopathies
Sewry CA, Wallgren-Pettersson C
Neuropathology and applied neurobiology, 2017, 43, 1, p 5
Current and future therapeutic approaches to the congenital myopathies
Jungbluth H, Ochala J, Treves S, et al.
Seminars in cell & developmental biology, 2017, 64, p 191
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency
Hedberg-Oldfors C, Darin N, Olsson Engman M, et al.
European journal of human genetics : EJHG, 2016, 24, 12, p 1771
RYR1-related myopathies : Actes de colloque - 217th ENMC International Workshop - Naarden The Netherlands, 29-31 January 2016
Jungbluth H, Dowling JJ, Ferreiro A, et al.
Neuromuscular disorders : NMD, 2016, 26, 9, p 624
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 - Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
Maggi L, Scoto M, Cirak S, et al.
Neuromuscular disorders : NMD, 2013, 23, 3, p. 195-205
Congenital fiber-type disproportion
Clarke NF
Seminars in pediatric neurology, 2011, 18, 4;, p. 264-271
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology
Tominaga K, Hayashi YK, Goto K, et al.
Acta neuropathologica, 2010, 119, 4, p. 481-486
Predominant fiber atrophy and fiber type disproportion in early Ullrich disease
Schessl J, Goemans NM, Magold AI, et al.
Muscle & Nerve, 2008, 38, 3, p. 1184-1191
Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations
Khan A, Sarnat HB, Spaetgens R
Journal of child neurology, 2008, 23, 7, p. 829-831
Mutations in TPM3 are a common cause of congenital fiber type disproportion
Clarke NF, Kolski H, Dye DE, et al.
Annals of neurology, 2008, 63, 3, p 329
Pathological defects in congenital myopathies
Sewry CA
Journal of muscle research and cell motility, 2008, 29, 6-8, p. 231-238
Camptocormia as a clinical manifestation of mitochondrial myopathy
Gomez-Puerta JA, Peris P, Grau JM, et al.
Clinical rheumatology, 2007, 26, p. 1017-1019
Colloque dystrophies musculaires des Ceintures
Biard E
Congrès : Colloque dystrophies musculaires des ceintures (12-13 mai 2006; Evry)
Compte rendu Flash (AFM), Savoir & Comprendre, 2006, 8 p.
Congenital myotonic dystrophy : variability in muscle involvement and histopathological process
Kuo HC, Huang CC, Chu CC, et al.
Acta neurologica Taiwanica, 2006, 15, 1, p. 13-20
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance
Na SJ, Kim WK, Kim TS, et al.
Yonsei medical journal, 2006, 47, 4, p. 513-518
Congenital myopathy with arthrogryposis and atypical progeria arising from FACE1 homozygous mutation. Lamins A/C processing pathway is also involved in muscle disease (abstract : congrès international de Myologie, 2005)
Ben Yaou R, Navarro C, Massart C, et al.
Congrès : Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France)
2005, p. 250
Clinical and histologic changes in the follow-up of a congenital myopathy
Camacho A, Villarejo A, Simon R, et al.
Pediatric neurology, 2005, 33, 2, p. 139-141
Actin mutations are one cause of congenital fibre type disproportion
Laing NG, Clarke NF, Dye DE, et al.
Annals of neurology, 2004, 56, 5, p. 689-694
Congenital fiber type disproportion - 30 years on
Clarke NF, North KN
Journal of neuropathology and experimental neurology, 2003, 62, 10, p. 977-989
Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation
Carlsson L, Fischer C, Sjoberg G, et al.
Acta neuropathologica, 2002, 104, 5, p. 493-504
A new congenital myopathy in a Norwegian family
Aurivillius M, Lindal S
Acta paediatrica, 2001, 90, p. 1478-1480
The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders
Imoto C, Nonaka I
Brain and development, 2001, 23, p. 298-302
