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

Abstract 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...

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Main Authors: Yazhao Mei (Author), Yunyi Jiang (Author), Zhenlin Zhang (Author), Hao Zhang (Author)
Format: Book
Published: BMC, 2023-03-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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