11 | Human immortalized myoblasts/induced pluripotent stem cell derived skeletal muscle model to investigate cystinosis myopathy
Cystinosis myopathy develops in cystinosis patients with CTNS mutations as the disease progresses despite cysteamine therapy or kidney transplantation. It presents as muscle weakness in distal, swallowing and respiratory muscles1. Muscle biopsy typically reveals autophagic vacuoles and cystine cryst...
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| Autor principal: | |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
PAGEPress Publications
2026-04-01
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| coleção: | European Journal of Translational Myology |
| Acesso em linha: | https://www.pagepressjournals.org/bam/article/view/15459 |
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