Mutations in <i>MYLPF</i> cause a novel segmental amyoplasia that manifests as distal arthrogryposis

X. Chong, Jessica; C. Talbot, Jared; M. Teets, Emily; Beck Previs, Samantha; L. Martin, Brit; M. Shively, Kathryn; T. Marvin, Colby; S. Aylsworth, Arthur; Saadeh‐Haddad, Reem; A. Schatz, Ulrich; Inzana, Francesca; Ben‐Omran, Tawfeg; Almusafri, Fatima; AlMulla, Mariam; J. Buckingham, Kati; Harel, Tamar; Mor‐Shaked, Hagar; Radhakrishnan, Periyasamy; M. Girisha, Katta; S. Nayak, Shalini; Shukla, Anju; Dieterich, Klaus; Fauré, Julien; Rendu, John; Capri, Yline; Latypova, Xénia; A. Nickerson, Deborah; M. Warshaw, David; M.L. Janssen, Paul; L. Amacher, Sharon; J. Bamshad, Michael

doi:10.1101/2020.05.06.071555

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Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

Published in bioRxiv (Cold Spring Harbor Laboratory) • May 8, 2020

Authors:

Jessica X. Chong

Jared C. Talbot

Emily M. Teets

Abstract

Abstract We identified ten persons in six consanguineous families with Distal Arthrogryposis (DA) who had congenital contractures, scoliosis, and short stature. Exome sequencing revealed that each affected person was homozygous for one of two different rare variants (c.470G>T, p.(Cys157Phe) or c.469...

Subject

Arthrogryposis

Muscle contracture

Congenital myopathy

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