EDP Sciences logo
Subscriber Authentication Point
Search
Menu
Home All issues Volume 41 (Novembre 2025) Hors série n° 2 Med Sci (Paris), 41 (2025) 64-70 References
Free Access
Issue
Med Sci (Paris)
Volume 41, Novembre 2025
Les Cahiers de Myologie
Page(s) 64 - 70
Section Prix SFM
DOI https://doi.org/10.1051/medsci/2025180
Published online 28 November 2025
  1. Cassandrini D, Trovato R, Rubegni A, et al. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital. J. Pediatr. 2017 ; 43 (1) : 101. [Google Scholar]
  2. North KN, Wang CH, Clarke N, et al. Approach to the diagnosis of congenital myopathies. Neuromuscul. Disord. NMD 2014 ; 24 (2) : 97–116. [Google Scholar]
  3. Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul. Disord. NMD 2010 ; 20 (4) : 223–228. [Google Scholar]
  4. Jungbluth H, Treves S, Zorzato F, et al. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat. Rev. Neurol. 2018 ; 14 (3) : 151–167. [Google Scholar]
  5. Schartner V, Romero NB, Donkervoort S, et al. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathol. (Berl.) 2017 ; 133 (4) : 517–533. [Google Scholar]
  6. Feraudy Y de, Vandroux M, Romero NB, et al. Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. Genome Med. 2024 ; 16 (1) : 87. [Google Scholar]
  7. Bevilacqua JA, Monnier N, Bitoun M, et al. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol. Appl. Neurobiol. 2011 ; 37 (3) : 271–284. [Google Scholar]
  8. Wilmshurst JM, Lillis S, Zhou H, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann. Neurol. 2010 ; 68 (5) : 717–726. [Google Scholar]
  9. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013 ; 81 (14) : 1205–1214. [CrossRef] [PubMed] [Google Scholar]
  10. Berardo A, Lornage X, Johari M, et al. HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes. J. Neurol. 2019 ; 266 (10) : 2524–2534. [Google Scholar]
  11. Lornage X, Mallaret M, Silva-Rojas R, et al. Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy. Neurogenetics 2021 ; 22 (1) : 33–41. [Google Scholar]
  12. Davignon L, Chauveau C, Julien C, et al. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Hum. Mol. Genet. 2016 ; 25 (8) : 1559–1573. [Google Scholar]
  13. Villar-Quiles RN, Catervi F, Cabet E, et al. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann. Neurol. 2020 ; 87 (2) : 217–232. [Google Scholar]
  14. Böhm J, Malfatti E, Oates E, et al. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. J. Med. Genet. 2019 ; 56 (9) : 617–621. [Google Scholar]
  15. Echaniz-Laguna A, Lornage X, Lannes B, et al. HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. Acta Neuropathol. (Berl.) 2017 ; 134 (1) : 163–165. [Google Scholar]
  16. Schartner V, Romero NB, Donkervoort S, et al. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathol. (Berl.) 2017 ; 133 (4) : 517–533. [Google Scholar]
  17. Lornage X, Malfatti E, Chéraud C, et al. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann. Neurol. 2017 ; 81 (3) : 467–473. [Google Scholar]
  18. Scott HS, Litjens T, Nelson PV, et al. Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. Am. J. Hum. Genet. 1993 ; 53 (5) : 973–986. [Google Scholar]
  19. Lornage X, Romero NB, Grosgogeat CA, et al. ACTN2 mutations cause “Multiple structured Core Disease” (MsCD). Acta Neuropathol. (Berl.) 2019 ; 137 (3) : 501–519. [Google Scholar]
  20. Barone V, Del Re V, Gamberucci A, et al. Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. Hum. Mutat. 2017 ; 38 (12) : 1761–1773. [Google Scholar]
  21. Böhm J, Lornage X, Chevessier F, et al. CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. Acta Neuropathol. (Berl.) 2018 ; 135 (1) : 149–151. [Google Scholar]
  22. Foley AR, Zou Y, Dunford JE, et al. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Ann. Neurol. 2020 ; 88 (2) : 332–347. [Google Scholar]
  23. Vasli N, Harris E, Karamchandani J, et al. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain J. Neurol. 2017 ; 140 (1) : 37–48. [Google Scholar]
  24. Böhm J, Bulla M, Urquhart JE, et al. ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. Hum. Mutat. 2017 ; 38 (4) : 426–438. [Google Scholar]
  25. Endo Y, Noguchi S, Hara Y, et al. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels. Hum. Mol. Genet. 2015 ; 24 (3) : 637–648. [Google Scholar]
  26. Garibaldi M, Fattori F, Riva B, et al. A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis. Clin. Genet. 2017 ; 91 (5) : 780–786. [Google Scholar]
  27. Malfatti E, Böhm J, Lacène E, et al. A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy. J. Neuromuscul. Dis. 2015 ; 2 (3) : 219–227. [Google Scholar]
  28. Alazami AM, Kentab AY, Faqeih E, et al. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J. Med. Genet. 2015 ; 52 (6) : 400–404. [Google Scholar]
  29. Lornage X, Schartner V, Balbueno I, et al. Clinical, histological, and genetic characterization of PYROXD1-related myopathy. Acta Neuropathol. Commun. 2019 ; 7 (1) : 138. [Google Scholar]
  30. O’Grady GL, Best HA, Sztal TE, et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am. J. Hum. Genet. 2016 ; 99 (5) : 1086–1105. [Google Scholar]
  31. Töpf A, Cox D, Zaharieva IT, et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat. Genet. 2024 ; 56 (3) : 395–407. [Google Scholar]
  32. Böhm J, Chevessier F, Maues De Paula A, et al. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am. J. Hum. Genet. 2013 ; 92 (2) : 271–278. [Google Scholar]
  33. Nesin V, Wiley G, Kousi M, et al. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc. Natl. Acad. Sci. U. S. A. 2014 ; 111 (11) : 4197–4202. [Google Scholar]
  34. Morin G, Biancalana V, Echaniz-Laguna A, et al. Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. Hum. Mutat. 2020 ; 41 (1) : 17–37. [Google Scholar]
  35. Donkervoort S, Kutzner CE, Hu Y, et al. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. Am. J. Hum. Genet. 2020 ; 107 (6) : 1078–1095. [Google Scholar]
  36. Cummings BB, Marshall JL, Tukiainen T, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci. Transl. Med. 2017 ; 9 (386) : eaal5209. [Google Scholar]
  37. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013 ; 81 (14) : 1205–1214. [CrossRef] [PubMed] [Google Scholar]
  38. Malfatti E, Schaeffer U, Chapon F, et al. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. Neuromuscul. Disord. NMD 2013 ; 23 (12) : 992–997. [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.