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Research Digest
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| Mar. 02 |
Studies Yield New Insights on Myotubular Myopathy
[Quest] Herman GE et al. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb;19(2):114-21. [PubMed abstract] Dorchies OM et al. Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system. Neuromuscul Disord. 2001 Nov;11(8):736-46. [PubMed abstract] |
| Mar. 02 |
With Aggressive Care, Nemaline Myopathy Often Has Good Prognosis
Ryan MM et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. 2001 Sep;50(3):312-20. Review. [PubMed abstract] [Quest] |
| Nov. 01 |
Mouse model created for nemaline myopathy
Corbett MA et al. A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet. 2001 Feb 15;10(4):317-28. [PubMed abstract] [Quest] |
| Nov. 00 |
New Evidence Questions the Function of Myotubularin in Muscle Development Taylor GS et al. (2000): Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proceedings of the National Academy of Sciences, USA, 97(16):8910-8915z [PubMed abstract] [MDA Technical Summary] |
| Dec. 99 |
Mutations in Desmin Gene are Linked to Autosomal Dominant Distal Myopathy Sjoberg G, et al. (1999): A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. (MDA funded) [PubMed abstract] |
| Dec. 99 |
Third Gene for Nemaline Myopathy Found Nowak KJ, et al. (1999): Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics, 23:208-212. (MDA funded) [PubMed abstract] [MDA Technical Summary] |
| Aug. 99 |
Subset of Sodium Channel Defects Causing Episodic Muscle Weakness Are Triggered by Problems With Slow Inactivation Hayward, LJ et al. (May, 1999): Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology, 52(7):1447-1453. (MDA funded) [PubMed abstract] |
| Aug. 99 |
Current Understanding of Ion Channels in Neurological Disease: Review Cooper, E and Yeh Jan, L (1999): Ion channel genes and human neurological disease: recent progress, prospects and challenges. Proceedings of the National Academy of Science USA, 96:4759-4766. [PubMed abstract] |
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