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Description
The differential diagnosis includes X-linked infantile SMA with arthrogryposis (XL-SMA) [4, 5], SMA due to mitochondrial dysfunction [68], SMA with pontocerebellar hypoplasia (SMA-PCH/PCH1) [913], and SMA with respiratory distress (SMARD) (Table 1) [1416]
10.1016/j.neuron.2010.09.002 55 Katsu-JimnezY.AlvesR
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