Neuropediatrics 2008; 39(5): 264-267
DOI: 10.1055/s-0029-1202288
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

Genetically Confirmed Patients with Merosin-deficient Congenital Muscular Dystrophy in China

J. Yuan 1 , H. Takashima 2 , I. Higuchi 2 , K. Arimura 2 , N. Li 1 , Z. Zhao 1 , H. Shen 1 , J. Hu 1
  • 1Department of Neuromuscular Disease, Third Hospital of Hebei Medical University, Shijiazhuang, P. R. China
  • 2Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
Weitere Informationen

Publikationsverlauf

received 30.09.2008

accepted 29.12.2008

Publikationsdatum:
17. März 2009 (online)

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Abstract

We report a family and a single patient in China involved with merosin-deficient congenital muscular dystrophy (MDC1A) with typical clinical symptoms. Pathological analysis of biopsied skeletal muscle showed dystrophic changes with proliferated fibrotic tissue elements as the predominant finding. Immunohistochemical analysis demonstrated the complete absence of the laminin α2 chain (merosin) around muscle fibers. In patient 1, a double mutation, c.[9101_9104dupAACA:3412G>A] p.[H3035QfsX4:V1138M] was detected, whereas her parents and another sibling were heterozygous carriers. Patient 2 had a novel homozygous nonsense mutation, c.2907C>A (p.Cys969X), in exon 21. The genotype–phenotype correlation of Chinese children with novel merosin-deficient congenital muscular dystrophy is reported.

References

Correspondence

Dr. J. Hu

Department of Neuromuscular Disease

Third Hospital of Hebei Medical University

139# Ziqiang Road

Shijiazhuang City

Hebei Province 050051

People’s Republic of China

Telefon: +86/311/8860 22 39

Fax: +86/311/8702 36 26

eMail: jinghujp@yahoo.com.cn