MFN2point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/1471-2350-11-48.pdf
Reference25 articles.
1. Skre H: Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet. 1974, 6: 98-118.
2. The Mutation Database of Inherited Peripheral Neuropathies. [ http://www.molgen.ua.ac.be/CMTMutations/default.cfm ]
3. Dyck PJ, Lambert EH: Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol. 1968, 18: 603-618.
4. Harding AE, Thomas PK: The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 1980, 103: 259-280. 10.1093/brain/103.2.259.
5. Nicholson G, Nash J: Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology. 1993, 43: 2558-2564.
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