KEGG   DISEASE: H00700Help
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.
Category
Musculoskeletal disease; Nervous system 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
Inositol phosphate metabolism
Phosphatidylinositol signaling system
Endocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Gene
(XLMTM) MTM1 [HSA:4534] [KO:K01108]
(AD) DNM2 [HSA:1785] [KO:K01528]
(AR) BIN1 [HSA:274] [KO:K12562]
Other DBs
Reference
PMID:20181480 (description, gene)
  Authors
Romero NB
  Title
Centronuclear myopathies: a widening concept.
  Journal
Neuromuscul Disord 20:223-8 (2010)
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)

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