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 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]
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)

» Japanese version

DBGET integrated database retrieval system