Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22. Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding...
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Bibliographic Details
| Main Authors: |
Bolino, A,
Muglia, M,
Conforti, F,
LeGuern, E,
Salih, M,
Georgiou, D,
Christodoulou, K,
Hausmanowa-Petrusewicz, I,
Mandich, P,
Schenone, A,
Gambardella, A,
Bono, F,
Quattrone, A,
Devoto, M,
Monaco, A |
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| Format: | Journal article
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| Language: | English |
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| Published: |
2000
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