The Curse of Apneic Spells
| Autor: | Arpad von Moers, M. Radke, Hans H. Goebel, Werner Stenzel, Angela Abicht, Josefine Radke, Mona Dreesmann |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Apneic spells RYR1 medicine.medical_specialty Mutation Muscle biopsy Muscle Hypotonia medicine.diagnostic_test business.industry medicine.disease_cause 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology Pyridostigmine Internal medicine Pediatrics Perinatology and Child Health medicine Myocyte Neurology (clinical) business Novel mutation 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Seminars in Pediatric Neurology. 26:56-58 |
| ISSN: | 1071-9091 |
| DOI: | 10.1016/j.spen.2017.03.006 |
| Popis: | A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and DMPK genes, the RAPSN gene revealed one known mutation, p.Asn88Lys, from the mother, and one novel mutation, p.Cys366Gly, from the father. Life-saving pyridostigmine treatment suppressed her apneic spells and improved her motor development. |
| Databáze: | OpenAIRE |
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