KEGG   DISEASE: Centronuclear myopathyHelp
Entry
H00700                      Disease                                

Name
Centronuclear myopathy
Description
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.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00700  Centronuclear myopathy
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G70-G73  Diseases of myoneural junction and muscle
   G71  Primary disorders of muscles
    H00700  Centronuclear myopathy
BRITE hierarchy
Pathway
hsa00562  Inositol phosphate metabolism
hsa04070  Phosphatidylinositol signaling system
hsa04144  Endocytosis
hsa04721  Synaptic vesicle cycle
hsa04961  Endocrine and other factor-regulated calcium reabsorption
Gene
(XLMTM) MTM1 [HSA:4534] [KO:K01108]
(CNM1) DNM2 [HSA:1785] [KO:K01528]
(CNM2) BIN1 [HSA:274] [KO:K12562]
(CNM3) MYF6 [HSA:4618] [KO:K18485]
(CNM4) CCDC78 [HSA:124093]
(CNM5) SPEG [HSA:10290] [KO:K08809]
Other DBs
ICD-10: G71.2
MeSH: C538647 C562934 C563544
OMIM: 310400 160150 255200 614408 614807 615959
Reference
PMID:20181480 (description, gene)
  Authors
Romero NB
  Title
Centronuclear myopathies: a widening concept.
  Journal
Neuromuscul Disord 20:223-8 (2010)
DOI:10.1016/j.nmd.2010.01.014
Reference
PMID:18817572 (description, gene)
  Authors
Jungbluth H, Wallgren-Pettersson C, Laporte J
  Title
Centronuclear (myotubular) myopathy.
  Journal
Orphanet J Rare Dis 3:26 (2008)
DOI:10.1186/1750-1172-3-26
Reference
PMID:11053684 (gene)
  Authors
Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hubner C
  Title
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.
  Journal
Neuromuscul Disord 10:572-7 (2000)
DOI:10.1016/S0960-8966(00)00150-4
Reference
PMID:22818856 (gene)
  Authors
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
  Title
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
  Journal
Am J Hum Genet 91:365-71 (2012)
DOI:10.1016/j.ajhg.2012.06.012
Reference
PMID:25087613 (gene)
  Authors
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
  Title
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
  Journal
Am J Hum Genet 95:218-26 (2014)
DOI:10.1016/j.ajhg.2014.07.004

» Japanese version

DBGET integrated database retrieval system