KEGG   DISEASE: Centronuclear myopathy
H00700                      Disease                                
Centronuclear myopathy
Congenital myopathy [DS:H01810]
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 (XLMTM) 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.
Nervous system disease; Musculoskeletal disease
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00700  Centronuclear myopathy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C72  Congenital myopathies
     H00700  Centronuclear myopathy
hsa04144  Endocytosis
hsa04070  Phosphatidylinositol signaling system
hsa00562  Inositol phosphate metabolism
hsa04721  Synaptic vesicle cycle
(XLMTM) MTM1 [HSA:4534] [KO:K01108]
(CNM1) DNM2 [HSA:1785] [KO:K23484]
(CNM2) BIN1 [HSA:274] [KO:K12562]
(CNM3) MYF6 [HSA:4618] [KO:K18485]
(CNM4) CCDC78 [HSA:124093] [KO:K23693]
(CNM5) SPEG [HSA:10290] [KO:K08809]
(CNM6) MAP3K20 [HSA:51776] [KO:K04424]
Other DBs
ICD-11: 8C72.01
ICD-10: G71.2
MeSH: C538647 C562934 C563544
OMIM: 310400 160150 255200 614408 614807 615959 617760
Romero NB
Centronuclear myopathies: a widening concept.
Neuromuscul Disord 20:223-8 (2010)
Jungbluth H, Wallgren-Pettersson C, Laporte J
Centronuclear (myotubular) myopathy.
Orphanet J Rare Dis 3:26 (2008)
Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hubner C
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.
Neuromuscul Disord 10:572-7 (2000)
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
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
Am J Hum Genet 91:365-71 (2012)
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
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Am J Hum Genet 95:218-26 (2014)
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
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Brain 140:37-48 (2017)

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