Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) represents a family of related sensorimotor neuropathies. We studied a large family from a rural eastern Canadian community, with multiple individuals suffering from a condition clinically most similar to autosomal recessive axonal CMT, or AR-CMT2. Homozygosity mapp...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Saesneg |
| Cyhoeddwyd: |
2010
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| Mynediad Ar-lein: | https://doi.org/10.1371/journal.pgen.1001081 https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1001081&type=printable |
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