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

Affiliations
  • 1Department of Rehabilitation, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea. dhjangmd@naver.com
  • 2Department of Hospital Pathology, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 3Department of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 4Department of Orthopaedic Surgery, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 5Green Cross Genome, Yongin, Korea.
  • 6Green Cross Laboratories, Yongin, Korea.
  • 7Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

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.

  • 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

1. Quijano-Roy S, Sparks SE, Rutkowski A. LAMA2-related muscular dystrophy. In : Pagon RA, Adam MP, editors. GeneReviews. Seattle, WA: University of Washington, Seattle;1993-2017.
2. Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, et al. Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromuscul Disord. 1997; 7:85–89.
Article
3. Chan SH, Foley AR, Phadke R, Mathew AA, Pitt M, Sewry C, et al. Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy. Neuromuscul Disord. 2014; 24:677–683.
Article
4. Ding J, Zhao D, Du R, Zhang Y, Yang H, Liu J, et al. Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. Brain Dev. 2016; 38:242–249.
Article
5. Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, et al. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet. 2001; 38:649–657.
Article
6. Rajakulendran S, Parton M, Holton JL, Hanna MG. Clinical and pathological heterogeneity in late-onset partial merosin deficiency. Muscle Nerve. 2011; 44:590–593.
Article
7. Jang MA, Lee T, Lee J, Cho EH, Ki CS. Identification of a novel de novo variant in the PAX3 gene in Waardenburg Syndrome by diagnostic exome sequencing: the first molecular diagnosis in Korea. Ann Lab Med. 2015; 35:362–365.
Article
8. Hayashi YK, Tezak Z, Momoi T, Nonaka I, Garcia CA, Hoffman EP, et al. Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscul Disord. 2001; 11:350–359.
Article
9. Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, et al. Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology. 1998; 51:101–110.
10. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17:405–424.
Article
Full Text Links
  • ALM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr