Details

Autor(en) / Beteiligte

• Radke, Josefine
• Dreesmann, Mona
• Radke, Michael
• von Moers, Arpad
• Abicht, Angela
• Stenzel, Werner
• Goebel, Hans H

Titel

The Curse of Apneic Spells

Ist Teil von

• Seminars in pediatric neurology, 2018-07, Vol.26, p.56-58

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2018

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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. While no mutations were detected in RYR1, SMN, and SMARD1 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.