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Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected… Click to show full abstract
Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected as a diagnosis for the patient, and a missense mutation, p.Phe51Val, was identified in PLP1, the gene responsible for PMD. PMD can be a differential diagnosis in a male neonate presenting severe respiratory distress.
Keywords:
pelizaeus merzbacher;
diagnosis;
merzbacher disease;
respiratory distress;
respiratory
Journal Title: Human Genome Variation
Year Published: 2018
Link to full text (if available)
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Journal Title: Human Genome Variation
Year Published: 2018
Link to full text (if available)
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recommendations!