Title: | Congenital myopathies - Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom |
Journal : | Neuromuscular disorders : NMD, 23, 3 |
Authors: | Maggi L ; Scoto M ; Cirak S ; Robb SA ; Klein A ; Lillis S ; Cullup T ; Feng L ; Manzur AY ; Sewry CA ; Abbs S ; Jungbluth H ; Muntoni F |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p. 195-205 |
Languages: | English |
Keywords : | ACTA1 gene ; assisted ventilation ; central core disease ; centronuclear myopathy ; congenital myopathy ; disease evolution ; enteral nutrition ; genetic diagnosis ; genetic mutations ; MTM1 gene ; multiminicore disease ; muscle biopsies ; muscle fiber type and size disproportion ; NEB gene ; rod myopathy ; RYR1 gene ; SELENON gene ; skeletal muscle ; TPM3 gene ; X-linked myotubular myopathy |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2013.01.004 / Pubmed : 23394784 |