Associated Papers
A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.
Buvoli M et al.
The Journal of Clinical Investigation, 2024
38690726 (PubMed )
Supplement: jci-134-172599-s014.pdf
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Zhao S et al.
Nature Communications, 2024
38321032 (PubMed )
Supplement: 41467_2024_45442_MOESM6_ESM.xlsx › Sheet1
Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.
Yu M et al.
Orphanet Journal of Rare Diseases, 2020
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ et al.
Human Mutation, 2014
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