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Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

BACKGROUND: Spinal muscular atrophy, lower extremity predominant (SMALED) is a type of non-5q spinal muscular atrophy characterised by weakness and atrophy of lower limb muscles without sensory abnormalities. SMALED1 can be caused by dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene variants. Howeve...

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Detalles Bibliográficos
Autores principales:	Mei, Yazhao, Jiang, Yunyi, Zhang, Zhenlin, Zhang, Hao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990223/ https://www.ncbi.nlm.nih.gov/pubmed/36882741 http://dx.doi.org/10.1186/s12920-023-01472-4

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