Mutation spectrum of hereditary myopathies in Turkish patients and novel variants
Author:
Affiliation:
1. Department of Medical Genetics University of Health Sciences, Dışkapı Yıldırım Beyazıt Research and Training Hospital Ankara Turkey
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12429
Reference26 articles.
1. Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy
2. Clinical exome sequencing in neuromuscular diseases: an experience from Turkey
3. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
4. Congenital myopathies: clinical phenotypes and new diagnostic tools
5. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
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1. Case report: Revealing the rare—a Brody Disease patient from Turkey expanding the phenotype;Frontiers in Genetics;2023-11-30
2. High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy;Annals of Human Genetics;2022-12-27
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