Congenital Myopathies
Author:
Publisher
Wiley
Subject
Clinical Neurology,Pathology and Forensic Medicine,General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1750-3639.2001.tb00393.x/fullpdf
Reference94 articles.
1. A follow-up study of congenital non-progressive myopathies;Akiyama;Brain Dev,1996
2. X-linked vacuolar myopathies: two separate loci and refined genetic mapping;Auranen;Ann Neurol,2000
3. Hyaline body myopathy;Barohn;Neuromusc Disord,1994
4. Strong immunoreactivity of alpha1-antichymotrypsin co-localizes with beta-amyloid protein and ubiquitin in vacuolated muscle fibres of inclusion-body myositis;Bilak;Acta Neuropathol (Berl),1993
5. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on PI 3-kinase and phosphatidylinositol 3 phosphate pathway;Blondeau;Hum Mol Genet,2000
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3. Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region;Orphanet Journal of Rare Diseases;2019-12
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