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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Turkish Pediatric Association
2021
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| 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 |