Article

Physical Therapy for Type III Spinal Muscular Atrophy in a Uyghur Pedigree

2021-04-26

Abstract excerpt

<h4>Background: </h4> Spinal muscular atrophy (SMA) is a genetically determined neuromuscular disease with predominantly proximal muscle atrophy and weakness caused by degeneration of lower motor neurons in the central nervous system. SMN1 is recognized as an SMA causing gene. The SMN2 copy numbers was assessed for SMA severity. Multiple ligation-dependent probe amplification (MLPA) technique allows to confirm the...

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Literature Corpus work: 6f7451bd-c144-5d80-979f-1679de1dfa5e
DOI: 10.21203/rs.3.rs-392834/v1

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