Abstract
Centronuclear myopathy (CNM) is a muscle wasting disorder that occurs in three distinct forms. Previous studies have shown linkage between the X linked form of the disease and the Xq28 probes ST14, DX13, and F8C. Our study on a previously unreported, three generation, X linked CNM family confirms linkage between these markers and the CNM locus (Z = 3.21, theta = 00). However, results from the laboratory of J-L Mandel (Samson and Hanover, personal communication) on a number of X linked CNM families exclude genetic linkage from the region Xq26-qter, suggesting genetic heterogeneity in this condition.
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- Heckmatt J. Z., Sewry C. A., Hodes D., Dubowitz V. Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children. Brain. 1985 Dec;108(Pt 4):941–964. doi: 10.1093/brain/108.4.941. [DOI] [PubMed] [Google Scholar]
- Keppen L. D., Husain M. M., Woody R. C. X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female. Clin Genet. 1987 Aug;32(2):95–99. doi: 10.1111/j.1399-0004.1987.tb03332.x. [DOI] [PubMed] [Google Scholar]
- Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed] [Google Scholar]
- Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215–1215. doi: 10.1093/nar/16.3.1215. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Spiro A. J., Shy G. M., Gonatas N. K. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol. 1966 Jan;14(1):1–14. doi: 10.1001/archneur.1966.00470070005001. [DOI] [PubMed] [Google Scholar]
- Wion K. L., Tuddenham E. G., Lawn R. M. A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Res. 1986 Jun 11;14(11):4535–4542. doi: 10.1093/nar/14.11.4535. [DOI] [PMC free article] [PubMed] [Google Scholar]