These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
113 related articles for article (PubMed ID: 30149909)
41. Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male. Hedberg-Oldfors C; Visuttijai K; Topa A; Tulinius M; Oldfors A Neuromuscul Disord; 2017 Sep; 27(9):843-847. PubMed ID: 28622964 [TBL] [Abstract][Full Text] [Related]
43. Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy. Fujise K; Okubo M; Abe T; Yamada H; Takei K; Nishino I; Takeda T; Noguchi S Hum Mutat; 2022 Feb; 43(2):169-179. PubMed ID: 34837441 [TBL] [Abstract][Full Text] [Related]
44. Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature. Rodríguez Cruz PM; Sewry C; Beeson D; Jayawant S; Squier W; McWilliam R; Palace J Neuromuscul Disord; 2014 Dec; 24(12):1103-10. PubMed ID: 25127990 [TBL] [Abstract][Full Text] [Related]
45. A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. Bitoun M; Bevilacqua JA; Eymard B; Prudhon B; Fardeau M; Guicheney P; Romero NB Neurology; 2009 Jan; 72(1):93-5. PubMed ID: 19122038 [No Abstract] [Full Text] [Related]
46. The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. Gal A; Inczedy-Farkas G; Pal E; Remenyi V; Bereznai B; Geller L; Szelid Z; Merkely B; Molnar MJ Clin Neuropathol; 2015; 34(2):89-95. PubMed ID: 25492887 [TBL] [Abstract][Full Text] [Related]
47. Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy. de Goede CG; Kelsey A; Kingston H; Tomlin PI; Hughes MI Dev Med Child Neurol; 2005 Dec; 47(12):835-7. PubMed ID: 16288675 [TBL] [Abstract][Full Text] [Related]
48. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Echaniz-Laguna A; Nicot AS; Carré S; Franques J; Tranchant C; Dondaine N; Biancalana V; Mandel JL; Laporte J Neuromuscul Disord; 2007 Dec; 17(11-12):955-9. PubMed ID: 17825552 [TBL] [Abstract][Full Text] [Related]
49. Congenital myopathies: not only a paediatric topic. Jungbluth H; Voermans NC Curr Opin Neurol; 2016 Oct; 29(5):642-50. PubMed ID: 27538056 [TBL] [Abstract][Full Text] [Related]
50. Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. Jeub M; Bitoun M; Guicheney P; Kappes-Horn K; Strach K; Druschky KF; Weis J; Fischer D Clin Neuropathol; 2008; 27(6):430-8. PubMed ID: 19130742 [TBL] [Abstract][Full Text] [Related]
51. Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy. Li Z; Chu X; Li Y; Xie Z; Yu M; Deng J; Lv H; Zhang W; Wang Z; Yuan Y; Meng L Acta Neuropathol; 2024 Sep; 148(1):38. PubMed ID: 39230604 [No Abstract] [Full Text] [Related]
52. RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre. Samões R; Oliveira J; Taipa R; Coelho T; Cardoso M; Gonçalves A; Santos R; Melo Pires M; Santos M J Neuromuscul Dis; 2017; 4(1):67-76. PubMed ID: 28269792 [TBL] [Abstract][Full Text] [Related]
53. Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. Bragato C; Gaudenzi G; Blasevich F; Pavesi G; Maggi L; Giunta M; Cotelli F; Mora M Sci Rep; 2016 Feb; 6():20466. PubMed ID: 26842864 [TBL] [Abstract][Full Text] [Related]
54. X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation. Schara U; Kress W; Tücke J; Mortier W Neurology; 2003 Apr; 60(8):1363-5. PubMed ID: 12707446 [TBL] [Abstract][Full Text] [Related]
55. Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. Pénisson-Besnier I; Biancalana V; Reynier P; Cossée M; Dubas F Neuromuscul Disord; 2007 Feb; 17(2):180-5. PubMed ID: 17251023 [TBL] [Abstract][Full Text] [Related]
56. Novel Wan Y; Zhou C; Chang X; Wu L; Zheng Y; Yu J; Bai L; Luan M; Yu M; Wang Q; Zhang W; Yuan Y; Deng J; Wang Z J Med Genet; 2024 Jun; 61(7):626-632. PubMed ID: 38413182 [TBL] [Abstract][Full Text] [Related]
57. X-linked myotubular myopathy: report of a case with novel mutation. Hortobágyi T; Szabó H; Kovács KS; Bódi I; Bereg E; Katona M; Biancalana V; Túri S; Sztriha L J Child Neurol; 2007 Apr; 22(4):447-51. PubMed ID: 17621527 [TBL] [Abstract][Full Text] [Related]
58. Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy. Liu X; Wu H; Gong J; Wang T; Yan C Mol Med Rep; 2016 May; 13(5):4273-8. PubMed ID: 27035234 [TBL] [Abstract][Full Text] [Related]
60. Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle. Joubert R; Vignaud A; Le M; Moal C; Messaddeq N; Buj-Bello A Hum Mol Genet; 2013 May; 22(9):1856-66. PubMed ID: 23390130 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]