Ann Lab Med.  2017 Jul;37(4):359-361. 10.3343/alm.2017.37.4.359.

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy

• Kim MW
• Jang DH
• Kang J
• Lee S
• Joo SY
• Jang JH
• Cho EH
• Choi YC
• Lee JH

• KMID: 2376799
• DOI: http://doi.org/10.3343/alm.2017.37.4.359

Abstract

No abstract available.

MeSH Terms

Humans
Muscular Dystrophies*
Siblings*

Figure

• 

  Fig. 1 Axial T2-weighted magnetic resonance images (A, the proband; B, the proband's sister) showing diffuse high signal intensity in the bilateral periventricular and subcortical white matter.

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  Fig. 2 Histologic examination of a muscle biopsy sample. (A) Hematoxylin and eosin (H-E) staining showing mild muscle fiber size variations, a few necrotic and regenerative muscle fibers, and endomysial edema (H-E stain, ×100). Immunohistochemical staining with the anti-laminin α2 antibody detected by 3,3′-diaminobenzidine (×200) showing decreased staining in the proband (B) compared with an age-matched normal control subject (C).

Reference

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