Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey
Yazarlar (12)
Hülya Sevcan Daimagüler Medizinische Fakultät, Almanya
Doç. Dr. Uğur AKPULAT Kastamonu Üniversitesi, Türkiye
Özkan Özdemir Medizinische Fakultät, Almanya
Uluc Yis Dokuz Eylül Üniversitesi, Türkiye
Serdal Güngör Inönü Üniversitesi Tip Fakültesi, Türkiye
Beril Talim Hacettepe Üniversitesi, Türkiye
Gülden Diniz Izmir Democracy University, Türkiye
Figen Baydan Tepecik Training And Research Hospital, Türkiye
Holger Thiele Medizinische Fakultät, Almanya
Janine Altmüller Medizinische Fakultät, Almanya
Peter Nürnberg Medizinische Fakultät, Almanya
Sebahattin Cirak Medizinische Fakultät, Almanya
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
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| Dergi Adı | American Journal of Medical Genetics Part A (Q3) | ||
| Dergi ISSN | 1552-4825 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 03-2021 |
| Cilt / Sayı / Sayfa | 185 / 6 / 1678–1690 | DOI | 10.1002/ajmg.a.62148 |
| Makale Linki | https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.62148 | ||
| UAK Araştırma Alanları |
Tıbbi Biyoloji
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| Özet |
| Congenital myopathies (CMs) are a heterogeneous group of inherited muscle disorders characterized by muscle weakness at birth, while limb‐girdle muscular dystrophies (LGMD) have a later onset and slower disease progression. Thus, detailed clinical phenotyping of genetically defined disease entities are required for the full understanding of genotype--phenotype correlations. A recently defined myopathic genetic disease entity is caused by bi‐allelic variants in a gene coding for pyridine nucleotide‐disulfide oxidoreductase domain 1 (PYROXD1) with unknown substrates. Here, we present three patients from two consanguineous Turkish families with mild LGMD, facial weakness, normal CK levels, and slow progress. Genomic analyses revealed a homozygous known pathogenic missense variant (c.464A>G, p.Asn155Ser) in family 1 with two affected females. In the affected male of family 2, we found this ... |
| Anahtar Kelimeler |
| congenital myopathy | haplotype analysis | LGMD | Mendeliome | PYROXD1 | whole exome sequencing |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Web of Science | 8 |
| Scopus | 10 |
| Google Scholar | 14 |