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Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum
Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented mild ataxia, a similar hand tremor and global developmental delay. Brain MRIs of the two a...
में बचाया:
| में प्रकाशित: | Cerebellum Ataxias |
|---|---|
| मुख्य लेखकों: | , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2014
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4552392/ https://ncbi.nlm.nih.gov/pubmed/26331032 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2053-8871-1-8 |
| टैग : |
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