Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

doi:10.1016/j.ajhg.2020.06.014

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Article

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

American journal of human genetics - 6 Aug 2020

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

Abstract excerpt

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.469T>C [p.Cys157Arg]) affecting the same residue of myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF). In a...

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PMID: 32707087
DOI: 10.1016/j.ajhg.2020.06.014
PMCID: PMC7413889

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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