Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A1663P
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MYH7

NM_000257.4:p.A1663P

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

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family.

Liu XY et al.

Chinese Medical Journal, 2019

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ et al.

Human Mutation, 2014

Myosinopathies: pathology and mechanisms.

Tajsharghi H et al.

Acta Neuropathologica, 2013

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

Lamont PJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2006

Distal myopathies.

Mastaglia FL et al.

Current Opinion in Neurology, 2005

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Meredith C et al.

American Journal of Human Genetics, 2004

104th European Neuromuscular Centre (ENMC) International Workshop: distal myopathies, 8-10th March 2002 in Naarden, The Netherlands.

Udd B et al.

Neuromuscular Disorders : Nmd, 2002

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