Varaico: Literature-Extracted Genetic Variants

Gene:MEGF10
Variant:p.R71W
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MEGF10

NM_001256545.2:p.R71W

Associated Papers

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Zhu B et al.

Neuromuscular Disorders : Nmd, 2026

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003

Severe Scoliosis As the Clue for an Early Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) Diagnosis During Childhood: A Case Report.

Figueiredo AS et al.

Cureus, 2024

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.

AlMuhaizea M et al.

Genes, 2021

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.

Takayama K et al.

Neuromuscular Disorders : Nmd, 2016

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Boyden SE et al.

Neurogenetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."