Importance of acrocyanosis in delayed walking
We present a four-year-old wth ethylmalonic encephalopathy who presented with delayed walking. She had bilateral hyperintense lesions in the basal ganglia. Molecular analysis revealed a homozygous c.3G>T mutation in the ETHE1 gene. She did not have typical findings of the disease including recurr...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Medknow Publications & Media Pvt Ltd
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395958/ |