Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference24 articles.
1. Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian natives;Lacson;Can J Neurol Sci,1994
2. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins;De Bleecker;J Neuropathol Exp Neurol,1996
3. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases;Nakano;J Neuropathol Exp Neurol,1996
4. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients;Selcen;Brain,2004
5. Missense mutations in desmin associated with familial cardiac and skeletal myopathy;Goldfarb;Nat Genet,1998
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