KEGG   DISEASE: Cap myopathy
H00702                      Disease                                
Cap myopathy
Nemaline myopathy [DS:H00698]
Congenital myopathy [DS:H01810]
Cap myopathy is a rare congenital myopathy morphologically characterized by the presence of cap-like structures which are sharply demarcated structures of disorganized thin filaments in the periphery of muscle fibers. These structures are in fact disarranged myofibrils with enlarged Z discs and no thick filaments. The severity of the disease is related to the number of fibers affected. Therefore, patients may present with a neonatal fatal form or have a more stable course of the disease in the infant non-fatal form. Respiratory problems are common. All the currently recognized genes associated with cap myopathy (TPM2, TPM3 and now ACTA1) encode components of the sarcomeric thin filaments.
Nervous system disease; Musculoskeletal disease
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C72  Congenital myopathies
     H00702  Cap myopathy
TRM2 [HSA:7169] [KO:K10374]
TRM3 [HSA:7170] [KO:K09290]
ACTA1 [HSA:58] [KO:K10354]
Other DBs
ICD-11: 8C72.00
ICD-10: G71.2
MeSH: C579969
OMIM: 609285 609284
Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
Neuromuscul Disord 20:238-40 (2010)
De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J
A TPM3 mutation causing cap myopathy.
Neuromuscul Disord 19:685-8 (2009)
Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Hum Mutat 31:176-83 (2010)

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