Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants

BICD2 variants have been linked to neurodegenerative disorders like spinal muscular atrophy with lower extremity predominance (SMALED2) or hereditary spastic paraplegia (HSP). Recently, mutations in BICD2 were implicated in myopathies. Here, we present one patient with a known and six patients with...

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Detalles Bibliográficos
Autores principales: Unger, Andreas, Roos, Andreas, Gangfuß, Andrea, Hentschel, Andreas, Gläser, Dieter, Krause, Karsten, Doering, Kristina, Schara-Schmidt, Ulrike, Hoffjan, Sabine, Vorgerd, Matthias, Güttsches, Anne-Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095373/
https://www.ncbi.nlm.nih.gov/pubmed/37047781
http://dx.doi.org/10.3390/ijms24076808

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095373/
https://www.ncbi.nlm.nih.gov/pubmed/37047781
http://dx.doi.org/10.3390/ijms24076808

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