KEGG   DISEASE: H00698Help
Entry
H00698                      Disease                                

Name
Nemaline myopathy
Description
Nemaline myopathy (NM) is the most common congenital myopathy inherited in an autosomal dominant or autosomal recessive manner. It is characterized by the presence of rods or nemaline bodies, which are red-purple inclusions in myofibers detected by modified Gomori trichrome technique. The hallmark symptoms are generalized muscle weakness with facial involvement or predominant involvement of proximal limb and respiratory muscles. Currently, NM is classified into six different forms: severe congenital (neonatal) form; Amish NM, intermediate congenital form; typical congenital form; childhood-onset form; and adult-onset (late-onset) form. Mutations in six genes, encoding components of the sarcomeric thin filaments, have been identified. Mutations in ACTA1 and NEB nebulin are the most common.
Category
Musculoskeletal disease; Nervous system disease
BRITE hierarchy
Pathway
Cardiac muscle contraction
Axon guidance
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Gene
TRM3 [HSA:7170] [KO:K09290]
NEB [HSA:4703] [KO:K18267]
ACTA1 [HSA:58] [KO:K10354]
TRM2 [HSA:7169] [KO:K10374]
TNNT1 [HSA:7138] [KO:K10372]
CFL2 [HSA:1073] [KO:K05765]
KBTBD13 [HSA:390594]
Other DBs
Reference
PMID:18367042 (description, gene)
  Authors
D'Amico A, Bertini E
  Title
Congenital myopathies.
  Journal
Curr Neurol Neurosci Rep 8:73-9 (2008)
Reference
PMID:20301465 (description)
  Authors
North K, Ryan MM
  Title
Nemaline Myopathy
  Journal
(1993)
Reference
PMID:21109227 (gene)
  Authors
Sambuughin N, Yau KS, Olive M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG
  Title
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
  Journal
Am J Hum Genet 87:842-7 (2010)

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