Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey

OBJECTIVES: Collagen-VI-related myopathies are caused by both dominant and recessive mutations in the three collagen-VI-related genes (COL6A1, COL6A2, and COL6A3) and present as two different major clinical entities; Bethlem myopathy and Ullrich congenital muscular dystrophy. METHODS: In this study,...

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Detalles Bibliográficos
Autores principales: Kutluk, Muhammet G., Kadem, Naz, Bektas, Omer, Randa, Nadide C., Tuncer, Gökcen O., Albayrak, Pelin, Eminoglu, Tuba, Teber, Serap T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8513947/
https://www.ncbi.nlm.nih.gov/pubmed/34728949
http://dx.doi.org/10.4103/aian.AIAN_1182_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8513947/
https://www.ncbi.nlm.nih.gov/pubmed/34728949
http://dx.doi.org/10.4103/aian.AIAN_1182_20

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