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Article

Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism.

Skeletal muscle - 15 Aug 2020

Guo Yiming, Kronert William A, Hsu Karen H, Huang Alice, Sarsoza Floyd, Bell Kaylyn M, Suggs Jennifer A, Swank Douglas M, Bernstein Sanford I

Abstract excerpt

BACKGROUND: Distal arthrogryposis (DA) is a group of autosomal dominant skeletal muscle diseases characterized by congenital contractures of distal limb joints. The most common cause of DA is a mutation of the embryonic myosin heavy chain gene, MYH3. Human phenotypes of DA are divided into the weakest form-DA1, a moderately severe form-DA2B (Sheldon-Hall Syndrome), and a severe DA disorder-DA2A (Freeman-Sheldon...

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Identifiers

PMID: 32799913
DOI: 10.1186/s13395-020-00241-6
PMCID: PMC7429702

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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