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4. A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. Dubourg O; Maisonobe T; Behin A; Suominen T; Raheem O; Penttilä S; Parton M; Eymard B; Dahl A; Udd B J Neurol; 2011 Jun; 258(6):1157-63. PubMed ID: 21279644 [TBL] [Abstract][Full Text] [Related]
5. Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene. Díaz-Manera J; Alejaldre A; Llauger J; Mirabet S; Rojas-García R; Ramos-Fransi A; Gallardo E; Illa I Eur J Neurol; 2014 Jun; 21(6):e51-2. PubMed ID: 24805292 [No Abstract] [Full Text] [Related]
6. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Clarke NF; Amburgey K; Teener J; Camelo-Piragua S; Kesari A; Punetha J; Waddell LB; Davis M; Laing NG; Monnier N; North KN; Hoffman EP; Dowling JJ Neuromuscul Disord; 2013 May; 23(5):432-6. PubMed ID: 23478172 [TBL] [Abstract][Full Text] [Related]
8. Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. Bánfai Z; Hadzsiev K; Pál E; Komlósi K; Melegh M; Balikó L; Melegh B BMC Med Genet; 2017 Sep; 18(1):105. PubMed ID: 28927399 [TBL] [Abstract][Full Text] [Related]
9. Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. Dye DE; Azzarelli B; Goebel HH; Laing NG Neuromuscul Disord; 2006 Jun; 16(6):357-60. PubMed ID: 16684601 [TBL] [Abstract][Full Text] [Related]
10. New phenotype and pathology features in MYH7-related distal myopathy. Tasca G; Ricci E; Penttilä S; Monforte M; Giglio V; Ottaviani P; Camastra G; Silvestri G; Udd B Neuromuscul Disord; 2012 Jul; 22(7):640-7. PubMed ID: 22521714 [TBL] [Abstract][Full Text] [Related]
11. MYH7 mutation associated with two phenotypes of myopathy. Li N; Zhao Z; Shen H; Bing Q; Guo X; Hu J Neurol Sci; 2018 Feb; 39(2):333-339. PubMed ID: 29170849 [TBL] [Abstract][Full Text] [Related]
12. Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. Feinstein-Linial M; Buvoli M; Buvoli A; Sadeh M; Dabby R; Straussberg R; Shelef I; Dayan D; Leinwand LA; Birk OS BMC Med Genet; 2016 Aug; 17(1):57. PubMed ID: 27519903 [TBL] [Abstract][Full Text] [Related]
14. Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations. Yu M; Zhu Y; Lu Y; Lv H; Zhang W; Yuan Y; Wang Z Orphanet J Rare Dis; 2020 Dec; 15(1):344. PubMed ID: 33298082 [TBL] [Abstract][Full Text] [Related]
15. Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. Overeem S; Schelhaas HJ; Blijham PJ; Grootscholten MI; ter Laak HJ; Timmermans J; van den Wijngaard A; Zwarts MJ Neuromuscul Disord; 2007 Jun; 17(6):490-3. PubMed ID: 17383184 [TBL] [Abstract][Full Text] [Related]
16. MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance. Atemin S; Todorov T; Maver A; Chamova T; Georgieva B; Tincheva S; Pacheva I; Ivanov I; Taneva A; Zlatareva D; Tournev I; Guergueltcheva V; Gospodinova M; Chochkova L; Peterlin B; Mitev V; Todorova A Neuromuscul Disord; 2021 Jul; 31(7):633-641. PubMed ID: 34053846 [TBL] [Abstract][Full Text] [Related]
17. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Fiorillo C; Astrea G; Savarese M; Cassandrini D; Brisca G; Trucco F; Pedemonte M; Trovato R; Ruggiero L; Vercelli L; D'Amico A; Tasca G; Pane M; Fanin M; Bello L; Broda P; Musumeci O; Rodolico C; Messina S; Vita GL; Sframeli M; Gibertini S; Morandi L; Mora M; Maggi L; Petrucci A; Massa R; Grandis M; Toscano A; Pegoraro E; Mercuri E; Bertini E; Mongini T; Santoro L; Nigro V; Minetti C; Santorelli FM; Bruno C; Orphanet J Rare Dis; 2016 Jul; 11(1):91. PubMed ID: 27387980 [TBL] [Abstract][Full Text] [Related]
18. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Meredith C; Herrmann R; Parry C; Liyanage K; Dye DE; Durling HJ; Duff RM; Beckman K; de Visser M; van der Graaff MM; Hedera P; Fink JK; Petty EM; Lamont P; Fabian V; Bridges L; Voit T; Mastaglia FL; Laing NG Am J Hum Genet; 2004 Oct; 75(4):703-8. PubMed ID: 15322983 [TBL] [Abstract][Full Text] [Related]
19. Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. Komlósi K; Hadzsiev K; Garbes L; Martínez Carrera LA; Pál E; Sigurðsson JH; Magnusson O; Melegh B; Wirth B Neuromuscul Disord; 2014 Feb; 24(2):156-61. PubMed ID: 24300783 [TBL] [Abstract][Full Text] [Related]
20. A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family. Liu XY; Zhang YS; Sun AP; Zhong YF; Zheng DF; Fan DS Chin Med J (Engl); 2019 Apr; 132(7):856-859. PubMed ID: 30897599 [No Abstract] [Full Text] [Related] [Next] [New Search]