Neuromuscular

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Paraspinous muscle weakness 4

Vesalius
      Vesalius




MRI: Paraspinous Muscle Atrophy

"Bent Spine" Syndrome 2

Bent Spine syndrome
MRI: T2 images

Wasting & Fibrosis (T-spine): Symmetric, Severe (Arrows)

Wasting & Fibrosis (L-spine): Asymmetric (Arrow)

Scoliosis: Adolescent Idiopathic


Scoliosis & Axial Myopathy 3

  Lady bird late, drosophila, homolog of, 1 (LBX1) ; Chromosome 10q24.31; Dominant
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References
1. J Neurol Sci 2000;176:70-74
2. Muscle Nerve 2002;25:189-193, J Neurol 2002;249:730-734, J Neurol Neurosurg Psychiatry 2002;73:1-7
3. Am J Med Genet A 2014;164A:2074-2078
4. Muscle Nerve 2015 Apr 21, Brain 2015 Dec 14
5. Am J Human Genet 2015; Online July

5/26/2016