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...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
BioMed Central
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552392/ |