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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2022
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| 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 |