J Clin Neurol.  2019 Jul;15(3):395-397. 10.3988/jcn.2019.15.3.395.

A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2

• Park JM
• Nishio H
• Shin JH
• Park JS

• KMID: 2451126
• DOI: http://doi.org/10.3988/jcn.2019.15.3.395

Abstract

No abstract available.

MeSH Terms

Humans
Muscular Atrophy, Spinal*
Phenotype*

Figure

• 

  Fig. 1 Muscle MRI findings for the proband (A) and her elder brother (B). The images show selective involvement of muscles with relatively spared involvement in the adductor longus (arrows) and gracilis (arrowheads) muscles.

Reference

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