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Home All issues Volume 36 (Décembre 2020) Hors série n° 2 Med Sci (Paris), 36 (2020) 38-50 References
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Issue
Med Sci (Paris)
Volume 36, Décembre 2020
Les Cahiers de Myologie
Page(s) 38 - 50
Section Myologie dans le monde
DOI https://doi.org/10.1051/medsci/2020266
Published online 11 January 2021
  1. Vicart P, Caron A, Guicheney P, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998 ; 20 : 92–95. [Google Scholar]
  2. Selçen D, Engel AG. Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations. Ann. Neurol 2003 ; 54 : 804–810. [CrossRef] [PubMed] [Google Scholar]
  3. Béhin A, Salort-Campana E, Wahbi K, et al. Myofibrillar myopathies: state of the art, present and future challenges. Rev Neurol (Paris) 2015 ; 171 : 715–729. [CrossRef] [PubMed] [Google Scholar]
  4. Sarparanta J, Jonson PH, Kawan S, et al. Neuromuscular diseases due to chaperone mutations: a review and Some new results. Int J Mol Sci 2020; 21 : 1409. [Google Scholar]
  5. Fardeau M, Godet-Guillain J, Tome FM, et al. Une nouvelle affection musculaire familiale définie par l’accumulation intra-sarco-plasmique d’un matériel granulo-filamentaire dense en microscopie électronique. Rev Neurol 1978 ; 134 : 411–425. [Google Scholar]
  6. De Bleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996 ; 55 : 563–577. [CrossRef] [PubMed] [Google Scholar]
  7. Sacconi S, Féasson L, Antoine JC, et al. A novel CRYAB mutation resulting in multisystemic disease. Neuromuscul Disord 2012 ; 22 : 66–72. [CrossRef] [PubMed] [Google Scholar]
  8. Reilich P, Schoser B, Schramm, et al. The p. G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. Neuromuscul Disord 2010 ; 20 : 255–259. [CrossRef] [PubMed] [Google Scholar]
  9. Berry V, Francis P, Reddy MA, et al. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet 2001 ; 69 : 1145–1145. [Google Scholar]
  10. Liu Y, Zhang X, Luo L, et al. Invest Ophthalmol Vis Sci 2006 ; 47 : 1069–1075. [CrossRef] [PubMed] [Google Scholar]
  11. Inagaki N, Hayashi T, Arimura T, et al. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun 2006 ; 342 : 379–386. [Google Scholar]
  12. Jiao Q, Sanbe A, Zhang X, et al. αB-Crystallin R120G variant causes cardiac arrhythmias and alterations in the expression of Ca2+-handling proteins and endoplasmic reticulum stress in mice. Clin Exp Pharmacol Physiol 2014 ; 41 : 589–599. [CrossRef] [PubMed] [Google Scholar]
  13. Brodehl A, Gaertner-Rommel A, Klauke B, et al. The novel αB-crystallin (CRYAB) mutation p. D109G causes restrictive cardiomyopathy. Hum Mutat 2017 ; 38 : 947–952. [CrossRef] [PubMed] [Google Scholar]
  14. Bortolani S, Fattori F, Monforte M, et al. Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy. J Neurol Sci 2020; 416 : 116999. [CrossRef] [PubMed] [Google Scholar]
  15. Van der Smagt JJ, Vink A, Kirkels JH, et al. Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies. Clin Genet 2014 ; 85 : 381–385. [CrossRef] [PubMed] [Google Scholar]
  16. Safieh LA, Khan AO, Alkuraya FS. Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. Mol Vis 2009 ; 15 : 980–984. [PubMed] [Google Scholar]
  17. Lacson AG, Seshia SS, Sarnat HB, et al. Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian Natives. Can J Neurol Sci 1994 ; 21 : 203–212. [CrossRef] [PubMed] [Google Scholar]
  18. Del Bigio MR, Chudley AE, Sarnat HB, et al. Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. Ann Neurol 2011 ; 69 : 866–871. [CrossRef] [PubMed] [Google Scholar]
  19. Forrest KM, Al-Sarraj S, Sewry C, et al. Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscul Disord 2011 ; 21 : 37–40. [CrossRef] [PubMed] [Google Scholar]
  20. Wu Y, Han C, He Y, et al. CRYAB gene related fatal infantile fattening myofibrillar myopathy: a report of two cases with literature review. Clin Pediatr 2019 ; 37 : 134–137. [Google Scholar]
  21. Ma K, Luo D, Tian T, et al. A novel homozygous initiation codon variant associated with infantile alpha-B crystallinopathy in a Chinese family. Mol Genet Genomic Med 2019 ; 7 : e825. [PubMed] [Google Scholar]
  22. Marcos AT, Amorós D, Muñoz-Cabello B, et al. A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset. Mol Genet Genomic Med 2020; 8 : e1290. [CrossRef] [PubMed] [Google Scholar]
  23. Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Eng J Med 2020. doi: 10.1056/NEJMoa2026834. [Google Scholar]
  24. Urtizberea JA, Fan QS, Vroom E, et al. Looking under every rock : Duchenne muscular dystrophy and traditional Chinese medicine. Neuromuscul Dis 2003 ; 13 : 705–707. [CrossRef] [Google Scholar]
  25. Courdier-Fruh I, Barman L, Wettstein P, et al. Detection of glucocorticoid-like activity in traditional Chinese medicine used for the treatment of Duchenne muscular dystrophy. Neuromuscul Dis 2003 ; 13 : 699–704. [CrossRef] [Google Scholar]
  26. Song P, He J, Li F, et al. Innovative measures to combat rare diseases in China: the national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine research. Intractable Rare Dis Res 2017 ; 6 : 1–5. [CrossRef] [PubMed] [Google Scholar]
  27. Xu EX. Professor Shi-Wen Wu: One City, One Doctor-building up the national DMD registry network. Ann Transl Med 2015 ; 3 : 204. [Google Scholar]
  28. Delpech M.. L’évolution de la médecine en Chine vue au travers d’une longue coopération. Les Tribunes de la Santé 2019 ; 59 : 1–7. [Google Scholar]

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