Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
| Autor: | Mohammad Hamid, Gholamreza Shariati, Behnaz Andashti, Alihossein Saberi, Hamid Galehdari |
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| Rok vydání: | 2014 |
| Předmět: |
leukodystrophy
Pathology medicine.medical_specialty Megalencephalic leukoencephalopathy with subcortical cysts medicine.diagnostic_test business.industry Leukodystrophy Macrocephaly Magnetic resonance imaging Prenatal diagnosis Case Reports General Medicine Neurological disorder MLC1 gene medicine.disease Seizure recurrence Leukoencephalopathy medicine novel mutation medicine.symptom Iranian business |
| Zdroj: | Clinical Case Reports |
| ISSN: | 2050-0904 |
| Popis: | Key Clinical Message Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X). |
| Databáze: | OpenAIRE |
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