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Table 1 SMN1 and SMN2 copy numbers. None of the patients had homozygous deletion of SMN1 or SMN2.

From: Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

 

SMN1 copy number

SMN2 copy number

Patient 1

2

1

Patient 2

2

2

Patient 3

1

2

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Italian Journal of Pediatrics

ISSN: 1824-7288

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