KEGG   DISEASE: Centronuclear myopathyHelp
H00700                      Disease                                

Centronuclear myopathy
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-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
hsa00562  Inositol phosphate metabolism
hsa04070  Phosphatidylinositol signaling system
hsa04144  Endocytosis
hsa04721  Synaptic vesicle cycle
hsa04961  Endocrine and other factor-regulated calcium reabsorption
(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
PMID:20181480 (description, gene)
Romero NB
Centronuclear myopathies: a widening concept.
Neuromuscul Disord 20:223-8 (2010)
PMID:18817572 (description, gene)
Jungbluth H, Wallgren-Pettersson C, Laporte J
Centronuclear (myotubular) myopathy.
Orphanet J Rare Dis 3:26 (2008)
PMID:11053684 (gene)
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)
PMID:22818856 (gene)
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)
PMID:25087613 (gene)
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)

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