Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy

We report a genotype-phenotype analysis of a family in which a titinopathy is transmitted in an autosomal dominant pattern. In this family, following neurological history and examination, electromyogram, and muscle biopsy, the diagnosis of limb-girdle muscular dystrophy with contractures was made in...

Descripción completa

Detalles Bibliográficos
Autores principales: Peddareddygari, Leema Reddy, Oberoi, Kinsi, Grewal, Raji P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674195/
https://www.ncbi.nlm.nih.gov/pubmed/36415435
http://dx.doi.org/10.7759/cureus.30550

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674195/
https://www.ncbi.nlm.nih.gov/pubmed/36415435
http://dx.doi.org/10.7759/cureus.30550

Ejemplares similares