KEGG   DISEASE: H00698Help
H00698                      Disease                                

Nemaline myopathy
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.
Musculoskeletal disease; Nervous system disease
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00698  Nemaline 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
    H00698  Nemaline myopathy
BRITE hierarchy
Cardiac muscle contraction
Axon guidance
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
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
PMID:18367042 (description, gene)
D'Amico A, Bertini E
Congenital myopathies.
Curr Neurol Neurosci Rep 8:73-9 (2008)
PMID:20301465 (description)
North K, Ryan MM
Nemaline Myopathy
PMID:21109227 (gene)
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
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Am J Hum Genet 87:842-7 (2010)

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