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2. A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. Kim HY; Ki CS; Kang SJ; Khang SK; Koh SH; Kim DW; Kim SH; Sung IH Muscle Nerve; 2008 Oct; 38(4):1336-9. PubMed ID: 18816602 [TBL] [Abstract][Full Text] [Related]
3. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Mercuri E; Brown SC; Nihoyannopoulos P; Poulton J; Kinali M; Richard P; Piercy RJ; Messina S; Sewry C; Burke MM; McKenna W; Bonne G; Muntoni F Muscle Nerve; 2005 May; 31(5):602-9. PubMed ID: 15770669 [TBL] [Abstract][Full Text] [Related]
4. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. 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 Neurology; 2012 Apr; 78(16):1258-63. PubMed ID: 22491857 [TBL] [Abstract][Full Text] [Related]
5. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Klinge L; Eagle M; Haggerty ID; Roberts CE; Straub V; Bushby KM Neuromuscul Disord; 2006 Oct; 16(9-10):553-8. PubMed ID: 16934468 [TBL] [Abstract][Full Text] [Related]
6. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Bakay M; Wang Z; Melcon G; Schiltz L; Xuan J; Zhao P; Sartorelli V; Seo J; Pegoraro E; Angelini C; Shneiderman B; Escolar D; Chen YW; Winokur ST; Pachman LM; Fan C; Mandler R; Nevo Y; Gordon E; Zhu Y; Dong Y; Wang Y; Hoffman EP Brain; 2006 Apr; 129(Pt 4):996-1013. PubMed ID: 16478798 [TBL] [Abstract][Full Text] [Related]
7. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Yanagisawa A; Bouchet C; Van den Bergh PY; Cuisset JM; Viollet L; Leturcq F; Romero NB; Quijano-Roy S; Fardeau M; Seta N; Guicheney P Neurology; 2007 Sep; 69(12):1254-60. PubMed ID: 17634419 [TBL] [Abstract][Full Text] [Related]
8. Two children with "dropped head" syndrome due to lamin A/C mutations. Chemla JC; Kanter RJ; Carboni MP; Smith EC Muscle Nerve; 2010 Nov; 42(5):839-41. PubMed ID: 20886652 [TBL] [Abstract][Full Text] [Related]
9. A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. Hattori A; Komaki H; Kawatani M; Sakuma H; Saito Y; Nakagawa E; Sugai K; Sasaki M; Hayashi YK; Nonaka I; Nishino I Neuromuscul Disord; 2012 Feb; 22(2):149-51. PubMed ID: 22240398 [TBL] [Abstract][Full Text] [Related]
10. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. Scharner J; Brown CA; Bower M; Iannaccone ST; Khatri IA; Escolar D; Gordon E; Felice K; Crowe CA; Grosmann C; Meriggioli MN; Asamoah A; Gordon O; Gnocchi VF; Ellis JA; Mendell JR; Zammit PS Hum Mutat; 2011 Feb; 32(2):152-67. PubMed ID: 20848652 [TBL] [Abstract][Full Text] [Related]
11. p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Kirschner J; Brune T; Wehnert M; Denecke J; Wasner C; Feuer A; Marquardt T; Ketelsen UP; Wieacker P; Bönnemann CG; Korinthenberg R Ann Neurol; 2005 Jan; 57(1):148-51. PubMed ID: 15622532 [TBL] [Abstract][Full Text] [Related]
12. Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. Park YE; Hayashi YK; Goto K; Komaki H; Hayashi Y; Inuzuka T; Noguchi S; Nonaka I; Nishino I Neuromuscul Disord; 2009 Jan; 19(1):29-36. PubMed ID: 19070492 [TBL] [Abstract][Full Text] [Related]
13. [Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures]. Hanisch F; Neudecker S; Wehnert M; Zierz S Nervenarzt; 2002 Oct; 73(10):1004-11. PubMed ID: 12376891 [TBL] [Abstract][Full Text] [Related]
14. Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. D'Amico A; Benedetti S; Petrini S; Sambuughin N; Boldrini R; Menditto I; Ferrari M; Verardo M; Goldfarb L; Bertini E Neuromuscul Disord; 2005 Dec; 15(12):847-50. PubMed ID: 16288872 [TBL] [Abstract][Full Text] [Related]
15. R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B. Yuan WL; Huang CY; Wang JF; Xie SL; Nie RQ; Liu YM; Liu PM; Zhou SX; Chen SQ; Huang WJ Chin Med J (Engl); 2009 Dec; 122(23):2840-5. PubMed ID: 20092787 [TBL] [Abstract][Full Text] [Related]
16. A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype. Maioli MA; Marrosu G; Mateddu A; Solla E; Carboni N; Tacconi P; Lai C; Marrosu MG Muscle Nerve; 2007 Dec; 36(6):828-32. PubMed ID: 17701980 [TBL] [Abstract][Full Text] [Related]
18. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Mercuri E; Poppe M; Quinlivan R; Messina S; Kinali M; Demay L; Bourke J; Richard P; Sewry C; Pike M; Bonne G; Muntoni F; Bushby K Arch Neurol; 2004 May; 61(5):690-4. PubMed ID: 15148145 [TBL] [Abstract][Full Text] [Related]
19. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. van Tintelen JP; Hofstra RM; Katerberg H; Rossenbacker T; Wiesfeld AC; du Marchie Sarvaas GJ; Wilde AA; van Langen IM; Nannenberg EA; van der Kooi AJ; Kraak M; van Gelder IC; van Veldhuisen DJ; Vos Y; van den Berg MP; Am Heart J; 2007 Dec; 154(6):1130-9. PubMed ID: 18035086 [TBL] [Abstract][Full Text] [Related]
20. Novel LMNA mutation presenting as severe congenital muscular dystrophy. Prigogine C; Richard P; Van den Bergh P; Groswasser J; Deconinck N Pediatr Neurol; 2010 Oct; 43(4):283-6. PubMed ID: 20837309 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]