Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1–Related Disease

Abstract Mutations in the ryanodine receptor-1 ( RYR1 ) may cause disorders inherited in an autosomal dominant/recessive fashion. Sequencing of RYR1 in an infant of Ashkenazi Jewish descent with severe hypotonia, dislocation of hip, torticollis and scoliosis, and paternal family history of autosomal...

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Veröffentlicht in:	Journal of pediatric genetics (Birmingham, Ala.) Ala.), 2020-06, Vol.9 (2), p.121-124
Hauptverfasser:	Avnon, Tomer, Svirsky, Ran, Orr-Urtreger, Avi, Sagie, Liora, Fattal-Valevski, Aviva, Fellig, Yakov, Ben-Shachar, Shay
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report
Online-Zugang:	Volltext
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