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Article

Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.

Human molecular genetics - 15 Apr 2012

Kurapati Ramakrishna, McKenna Caoimhe, Lindqvist Johan, Williams Debbie, Simon Michelle, LeProust Emily, Baker Jane, Cheeseman Michael, Carroll Natalie, Denny Paul, Laval Steve, Lochmüller Hanns, Ochala Julien, Blanco Gonzalo

Abstract excerpt

Ariel is a mouse mutant that suffers from skeletal muscle myofibrillar degeneration due to the rapid accumulation of large intracellular protein aggregates. This fulminant disease is caused by an ENU-induced recessive mutation resulting in an L342Q change within the motor domain of the skeletal muscle myosin protein MYH4 (MyHC IIb). Although normal at birth, homozygous mice develop hindlimb paralysis from Day 13,...

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Topics

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Share to Genes, Recessive
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Myofibrils

Share to Myosin Heavy Chains

Share to Protein Conformation

Share to Protein Structure, Tertiary

Source

Identifiers

PMID: 22199023
DOI: 10.1093/hmg/ddr605

Genes

MYH4
MYH1

Provenance

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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