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Genetics Home Reference: LMNA-related congenital muscular dystrophy

  • Barateau A, Vadrot N, Vicart P, Ferreiro A, Mayer M, Héron D, Vigouroux C, Buendia B. A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus. PLoS One. 2017 Jan 26;12(1):e0169189. doi: 10.1371/journal.pone.0169189. eCollection 2017.

  • Bonati U, Bechtel N, Heinimann K, Rutz E, Schneider J, Frank S, Weber P, Fischer D. Congenital muscular dystrophy with dropped head phenotype & cognitive impairment due to a book mutation in the LMNA gene. Neuromuscul Disord. 2014 Jun;24(6):529-32. doi: 10.1016/j.nmd.2014.02.004. Epub 2014 Feb 15.

  • D’Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I’m, Benedetti S, Bertini E, Bonne G, Topaloglu H. Two patients with ‘Dropped head syndrome’ due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord. 2005 Aug;15(8):521-4.

  • Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nonaka I'm am, Nishino I’m. A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head & brain involvement. Neuromuscul Disord. 2012 Feb;22(2):149-51. doi: 10.1016/j.nmd.2011.08.009. Epub 2012 Jan 11.

  • Heller F, Dabaj I'm, Mah JK, Bergounioux J, Essid A, Bönnemann CG, Rutkowski A, Bonne G, Quijano-Roy S, Wahbi K. Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports & recommendations for care. Cardiol Young. 2017 Aug;27(6):1076-1082. doi: 10.1017/S1047951116002079. Epub 2016 Dec 12.

  • Karaoglu P, Quizon N, Pergande M, Wang H, Polat AI, Ersen A, Özer E, Willkomm L, Hiz Kurul S, Heredia R, Yis U, Selcen D, Çirak S. Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. Brain Dev. 2017 Apr;39(4):361-364. doi: 10.1016/j.braindev.2016.11.002. Epub 2016 Nov 19.

  • Menezes MP, Waddell LB, Evesson FJ, Cooper S, Webster R, Jones K, Mowat D, Kiernan MC, Johnston HM, Corbett A, Harbord M, North KN, Clarke NF. Importance & challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology. 2012 Apr 17;78(16):1258-63. doi: 10.1212/WNL.0b013e318250d839. Epub 2012 Apr 4.

  • Pasqualin LM, Reed UC, Costa TV, Quedas E, Albuquerque MA, Resende MB, Rutkowski A, Chadi G, Zanoteli E. Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort. Pediatr Neurol. 2014 Apr;50(4):400-6. doi: 10.1016/j.pediatrneurol.2013.11.010. Epub 2013 Nov 21.

  • Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N. Book LMNA mutation presenting as severe congenital muscular dystrophy. Pediatr Neurol. 2010 Oct;43(4):283-6. doi: 10.1016/j.pediatrneurol.2010.05.016.

  • Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D’Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417.

  • Source: ghr.nlm.nih.gov

    Updated: May 16, 2018 — 3:30 am

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