X-linked myotubular myopathy in a family with three adult survivors - PubMed (original) (raw)
Case Reports
X-linked myotubular myopathy in a family with three adult survivors
S Yu et al. Clin Genet. 2003 Aug.
Abstract
We describe a family with an extremely mild form of X-linked myotubular myopathy. Three affected males survived to adulthood with sufficient muscle strength to enable them to carry out normal daily activities. The mildness of the myopathy in this family is highlighted by the following: no neonatal or infant mortality resulting from the myopathy; one affected male who did not have neonatal asphyxia and had normal early motor milestones - this affected male was able to increase his muscle bulk and strength to normal by weightlifting; and a 55-year-old male who still lives an independent life. DNA sequencing identified a novel missense mutation - G469A (E157K) - in exon 7 of the MTM1 gene in this family. To our knowledge, this is the third X-linked myotubular myopathy family, with multiple adult survivors, to be reported in the literature.
Similar articles
- Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.
Hoffjan S, Thiels C, Vorgerd M, Neuen-Jacob E, Epplen JT, Kress W. Hoffjan S, et al. Neuromuscul Disord. 2006 Nov;16(11):749-53. doi: 10.1016/j.nmd.2006.07.020. Epub 2006 Sep 26. Neuromuscul Disord. 2006. PMID: 17005396 - 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. de Goede CG, et al. Dev Med Child Neurol. 2005 Dec;47(12):835-7. doi: 10.1017/S0012162205001763. Dev Med Child Neurol. 2005. PMID: 16288675 - X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.
Schara U, Kress W, Tücke J, Mortier W. Schara U, et al. Neurology. 2003 Apr 22;60(8):1363-5. doi: 10.1212/01.wnl.0000058763.90924.fa. Neurology. 2003. PMID: 12707446 - X-linked myotubular and centronuclear myopathies.
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. Pierson CR, et al. J Neuropathol Exp Neurol. 2005 Jul;64(7):555-64. doi: 10.1097/01.jnen.0000171653.17213.2e. J Neuropathol Exp Neurol. 2005. PMID: 16042307 Review. - [Myotubular myopathy. Case report and review of the literature].
Kovács SK, Korcsik J, Szabó H, Bódi I, Katona M, Bereg E, Endreffy E, Túri S, Hortobágyi T, Sztriha L. Kovács SK, et al. Orv Hetil. 2007 Sep 16;148(37):1757-62. doi: 10.1556/OH.2007.28054. Orv Hetil. 2007. PMID: 17827085 Review. Hungarian.
Cited by
- Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Reumers SFI, Erasmus CE, Bouman K, Pennings M, Schouten M, Kusters B, Duijkers FAM, van der Kooi A, Jaeger B, Verschuuren-Bemelmans CC, Faber CG, van Engelen BG, Kamsteeg EJ, Jungbluth H, Voermans NC. Reumers SFI, et al. Clin Genet. 2021 Dec;100(6):692-702. doi: 10.1111/cge.14054. Epub 2021 Sep 25. Clin Genet. 2021. PMID: 34463354 Free PMC article. - Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.
Duong T, Harding G, Mannix S, Abel C, Phillips D, Alfano LN, Bönnemann CG, Lilien C, Lowes LP, Servais L, Warken-Madelung B, Nieto Bergman S, James ES, Noursalehi M, Prasad S, Rico S, Bilder DA. Duong T, et al. J Neuromuscul Dis. 2021;8(1):63-77. doi: 10.3233/JND-200479. J Neuromuscul Dis. 2021. PMID: 32925083 Free PMC article. - Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Pierson CR, Agrawal PB, Blasko J, Beggs AH. Pierson CR, et al. Neuromuscul Disord. 2007 Jul;17(7):562-8. doi: 10.1016/j.nmd.2007.03.010. Epub 2007 May 29. Neuromuscul Disord. 2007. PMID: 17537630 Free PMC article. - Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.
Elverman M, Goddard MA, Mack D, Snyder JM, Lawlor MW, Meng H, Beggs AH, Buj-Bello A, Poulard K, Marsh AP, Grange RW, Kelly VE, Childers MK. Elverman M, et al. Muscle Nerve. 2017 Nov;56(5):943-953. doi: 10.1002/mus.25658. Epub 2017 May 22. Muscle Nerve. 2017. PMID: 28370029 Free PMC article. - Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.
Zhao Y, Zhao Z, Shen H, Bing Q, Hu J. Zhao Y, et al. Neurol Sci. 2018 Dec;39(12):2043-2051. doi: 10.1007/s10072-018-3534-8. Epub 2018 Sep 19. Neurol Sci. 2018. PMID: 30232666
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases