X-linked myotubular myopathy (MTM 1) is a severe congenital myopathy characterized by hypotonia, muscle weakness, and associated respiratory insufficiency. Pennatal death is common. The disease locus was shown to be linked to polymorphic markers in Xq28 and we have recently refined the MTMl locus to
New Strategy for Prenatal Diagnosis of X-Linked Disorders
β Scribed by Costa, Jean-Marc; Benachi, Alexandra; Gautier, Evelyne
- Book ID
- 124165473
- Publisher
- Massachusetts Medical Society
- Year
- 2002
- Tongue
- English
- Weight
- 225 KB
- Volume
- 346
- Category
- Article
- ISSN
- 0096-6762
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