KEGG   DISEASE: Cap myopathyHelp
Entry
H00702                      Disease                                

Name
Cap myopathy
  Supergrp
Nemaline myopathy [DS:H00698]
Description
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.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00702  Cap myopathy
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
BRITE hierarchy
Pathway
hsa04260  Cardiac muscle contraction
Gene
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
Reference
  Authors
Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J
  Title
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
  Journal
Neuromuscul Disord 20:238-40 (2010)
DOI:10.1016/j.nmd.2010.01.011
Reference
  Authors
De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J
  Title
A TPM3 mutation causing cap myopathy.
  Journal
Neuromuscul Disord 19:685-8 (2009)
DOI:10.1016/j.nmd.2009.06.365
Reference
  Authors
Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
  Title
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
  Journal
Hum Mutat 31:176-83 (2010)
DOI:10.1002/humu.21157

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