A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N

Mutations in protein O-mannosyltransferase 2 can cause a wide spectrum of clinical phenotypes from severe congenital muscular dystrophy such as Walker-Warburg syndrome to milder limb-girdle muscular dystrophy 2N. We aimed to describe the clinical and paraclinical features, laboratory tests, and mole...

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Detalles Bibliográficos
Autores principales: Yıldırım, Miraç, Koçak Eker, Hatice, Doğan, Melih Timuçin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Turkish Pediatric Association 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114593/
https://www.ncbi.nlm.nih.gov/pubmed/34013233
http://dx.doi.org/10.14744/TurkPediatriArs.2020.37880

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114593/
https://www.ncbi.nlm.nih.gov/pubmed/34013233
http://dx.doi.org/10.14744/TurkPediatriArs.2020.37880

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