A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2012146.pdf
Reference27 articles.
1. Barisic N, Claeys KG, Sirotkovic-Skerlev M et al: Charcot-Marie-Tooth disease: a clinico-genetic confrontation. Ann Hum Genet 2008; 72: 416–441.
2. Harding AE, Thomas PK : Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980; 17: 329–336.
3. Bird TD : Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome. Neurol Clin 1989; 7: 9–23.
4. Berger P, Young P, Suter U : Molecular cell biology of Charcot-Marie-Tooth disease. Neurogenetics 2002; 4: 1–15.
5. Mastaglia FL, Nowak KJ, Stell R et al: Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 1999; 67: 174–179.
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