A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy
- PMID: 9199578
- PMCID: PMC1716143
- DOI: 10.1016/S0002-9297(07)64249-9
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy
Comment on
-
Genetic linkage heterogeneity in myotubular myopathy.Am J Hum Genet. 1995 Jul;57(1):120-6. Am J Hum Genet. 1995. PMID: 7611280 Free PMC article.
Similar articles
-
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.Eur J Hum Genet. 1998 Jul-Aug;6(4):325-30. doi: 10.1038/sj.ejhg.5200189. Eur J Hum Genet. 1998. PMID: 9781038
-
MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.Neuromuscul Disord. 1998 Oct;8(7):453-8. doi: 10.1016/s0960-8966(98)00075-3. Neuromuscul Disord. 1998. PMID: 9829274
-
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.Hum Mol Genet. 1997 Sep;6(9):1505-11. doi: 10.1093/hmg/6.9.1505. Hum Mol Genet. 1997. PMID: 9305655
-
[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene].No To Hattatsu. 1998 Nov;30(6):523-7. No To Hattatsu. 1998. PMID: 9844418 Review. Japanese.
-
MTM1 mutations in X-linked myotubular myopathy.Hum Mutat. 2000;15(5):393-409. doi: 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R. Hum Mutat. 2000. PMID: 10790201 Review.
Cited by
-
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.J Med Genet. 1998 Mar;35(3):241-3. doi: 10.1136/jmg.35.3.241. J Med Genet. 1998. PMID: 9541111 Free PMC article.
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical