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Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion
We describe a 6-year-old girl with a T118M PMP22 mutation and heterozygous deletion of PMP22 on chromosome 17 (17p11.2-p12) resulting in a severe sensorimotor polyneuropathy. METHODS: Case Report RESULTS: Foot pain, cavovarus feet, tibialis anterior atrophy, absent reflexes, and inability to walk we...
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| Gepubliceerd in: | Muscle Nerve |
|---|---|
| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2015
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4596757/ https://ncbi.nlm.nih.gov/pubmed/26012543 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.24713 |
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