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Paper Details

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet
18
2020
DA, Distal Arthrogryposis, Gly163Ser, MYLPF, MYLPF impairment, Mylpf protein, Segmental Amyoplasia, a c.98C>T, absence of skeletal muscle, c.470G, c.487G, c.98C, child, complete, congenital contractures, degeneration of skeletal muscle, distal arthrogryposis, muscle weakness, mylpf, mylpfa, mylpfa mutant, myosin, myosin light chain, phosphorylatable, fast skeletal muscle, p.Ala33Val, p.Cys157Arg, p.Cys157Phe, p.Gly163Ser, pectoral fin paralysis, person, persons, scoliosis, segmental amyoplasia, short stature, zebrafish, zebrafish mylpfa
Author NameAffiliation
Jessica X ChongUniversity of Washington, USA Brotman-Baty Institute
Jessica X ChongUniversity of Washington, USA Brotman-Baty Institute
Tawfeg Ben-OmranSidra Medicine and Hamad Medical Corporation
Kati J BuckinghamUniversity of Washington
Deborah A NickersonBrotman-Baty Institute, University of Washington
Deborah A NickersonBrotman-Baty Institute, University of Washington
Michael J BamshadUniversity of Washington, USA Brotman-Baty Institute, USA Seattle Children's Hospital
Michael J BamshadUniversity of Washington, USA Brotman-Baty Institute, USA Seattle Children's Hospital
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