ArticleHuman mutation2011
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
Article in Human mutation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 69 citations in OpenAlex.
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- Nonmuscle myosin II regulates presynaptic actin and neuronal mechanobiology in Drosophila.The Journal of cell biology · 2025Article
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- The audiological phenotype of patients with a variant in MYH9 and MYH14 genes.Scientific reports · 2025Article
- Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.American journal of medical genetics. Part A · 2024Article
- Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees.Human molecular genetics · 2023Article
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.Brain : a journal of neurology · 2023Article
- Wide Phenotypic Spectrum of PNMHH Patients With p.R941L Mutation inJournal of clinical neurology (Seoul, Korea) · 2022Article
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- Motor Proteins and Spermatogenesis.Advances in experimental medicine and biology · 2021Review
- Review
- A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.BMC medical genetics · 2020Article
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- Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers-Authors' reply.EBioMedicine · 2019Article
- Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
Abstract
Both peripheral neuropathy and distal myopathy are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss was diagnosed in a large autosomal dominant Korean family. A high density single nucleotide polymorphism (SNP)-based linkage study mapped the underlying gene to a region on chromosome 19q13.3. The maximum multipoint LOD score was 3.794. Sequencing of 34 positional candidate genes in the segregating haplotype revealed a novel c.2822G>T (p.Arg941Leu) mutation in the gene MYH14, which encodes the nonmuscle myosin heavy chain 14. Clinically we observed a sequential pattern of the onset of muscle weakness starting from the anterior to the posterior leg muscle compartments followed by involvement of intrinsic hand and proximal muscles. The hearing loss and hoarseness followed the onset of distal muscle weakness. Histopathologic and electrodiagnostic studies revealed both chronic neuropathic and myopathic features in the affected patients. Although mutations in MYH14 have been shown to cause nonsyndromic autosomal dominant hearing loss (DFNA4), the peripheral neuropathy, myopathy, and hoarseness have not been associated with MYH14. Therefore, we suggest that the identified mutation in MYH14 significantly expands the phenotypic spectrum of this gene.
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