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...

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Bibliographic Details
Published in:Cerebellum Ataxias
Main Authors: Noreau, Anne, Beauchemin, Philippe, Dionne-Laporte, Alexandre, Dion, Patrick A, Rouleau, Guy A, Dupré, Nicolas
Format: Artigo
Language:Inglês
Published: BioMed Central 2014
Subjects:
Case Report
Online Access: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
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