KEGG   DISEASE: Congenital myopathy
Entry
H01810                      Disease                                

Name
Congenital myopathy
  Subgroup
Nemaline myopathy [DS:H00698]
Central core disease [DS:H00699]
Centronuclear myopathy [DS:H00700]
Congenital fiber type disproportion [DS:H00701]
Multi-minicore disease [DS:H01310]
Compton-North congenital myopathy (MYPCN)
Congenital myopathy with fast-twitch (type II) fiber atrophy (MYOFTA)
Congenital myopathy with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (MYODRIF)
Congenital myopathy with structured cores and Z-line abnormalities (MYOCOZ)
Congenital myopathy with tremor (MYOTREM)
Progressive congenital myopathy with scoliosis (MYOSCO)
Description
The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital myopathies are mainly defined by the predominant histopathological features which include nemaline rods, central cores, multiple minicores, central nuclei, and selective hypotrophy of type 1 fibres. Based on these features, individual congenital myopathies such as nemaline myopathy, central core disease, multi-minicore disease, centronuclear myopathy, and congenital fiber type disproportion were reported. Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H01810  Congenital 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
     H01810  Congenital myopathy
Gene
(MYPCN) CNTN1 [HSA:1272] [KO:K06759]
(MYOFTA) MYL1 [HSA:4632] [KO:K05738]
(MYODRIF) MYOD1 [HSA:4654] [KO:K09064]
(MYOCOZ) ACTN2 [HSA:88] [KO:K21073]
(MYOTREM) MYBPC1 [HSA:4604] [KO:K12557]
(MYOSCO) PAX7 [HSA:5081] [KO:K09381]
Other DBs
ICD-11: 8C72
ICD-10: G71.2
MeSH: D020914
OMIM: 612540 618414 618975 618654 618578
Reference
  Authors
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bonnemann CG
  Title
Approach to the diagnosis of congenital myopathies.
  Journal
Neuromuscul Disord 24:97-116 (2014)
DOI:10.1016/j.nmd.2013.11.003
Reference
  Authors
Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, Cullup T, Feng L, Manzur AY, Sewry CA, Abbs S, Jungbluth H, Muntoni F
  Title
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
  Journal
Neuromuscul Disord 23:195-205 (2013)
DOI:10.1016/j.nmd.2013.01.004
Reference
  Authors
Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN
  Title
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
  Journal
Am J Hum Genet 83:714-24 (2008)
DOI:10.1016/j.ajhg.2008.10.022
Reference
  Authors
Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullee H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F
  Title
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
  Journal
Hum Mol Genet 27:4263-4272 (2018)
DOI:10.1093/hmg/ddy320
Reference
  Authors
Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A
  Title
Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.
  Journal
J Med Genet 53:264-9 (2016)
DOI:10.1136/jmedgenet-2015-103620
Reference
  Authors
Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bonnemann CG, Gupta VA, Fardeau M, Bohm J, Laporte J
  Title
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
  Journal
Acta Neuropathol 137:501-519 (2019)
DOI:10.1007/s00401-019-01963-8
Reference
  Authors
Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A
  Title
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
  Journal
Hum Mutat 40:1115-1126 (2019)
DOI:10.1002/humu.23760
Reference
  Authors
Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schols L, Michaud JL, Campeau PM, Haack TB, Dumont NA
  Title
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
  Journal
Genet Med 21:2521-2531 (2019)
DOI:10.1038/s41436-019-0532-z

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