エントリ 名称 中心核ミオパチー
上位グループ 概要 Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic bases of the three main forms: the X-linked recessive form or myotubular myopathy (CNMX) with severe neonatal phenotype, caused by mutations in the MTM1 gene; the classical autosomal dominant (AD) forms with mild, moderate or severe phenotypes caused by mutations in the DNM2 gene; and an autosomal recessive (AR) form presenting severe and moderate phenotypes caused by mutations in the BIN1 gene. Recently, heterozygous MYF6 mutation is reported to be associated with CNM.
カテゴリ 神経系疾患; 筋骨格疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy パスウェイ hsa04070 Phosphatidylinositol signaling system
病因遺伝子 リンク 文献 著者 Romero NB
タイトル Centronuclear myopathies: a widening concept.
雑誌 文献 著者 Jungbluth H, Wallgren-Pettersson C, Laporte J
タイトル Centronuclear (myotubular) myopathy.
雑誌 文献 著者 Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N
タイトル A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
雑誌 文献 著者 Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P
タイトル Mutations in dynamin 2 cause dominant centronuclear myopathy.
雑誌 文献 著者 Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J
タイトル Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
雑誌 文献 著者 Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hubner C
タイトル Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.
雑誌 文献 著者 Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ
タイトル Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
雑誌 文献 著者 Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloglu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH
タイトル SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
雑誌 文献 著者 Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmuller H, Brais B, Laporte J, Tetreault M
タイトル Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
雑誌 LinkDB All DBs
