A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.

Abstract

Limb-girdle muscular dystrophy (LGMD) is a group of hereditary muscle diseases with preferential involvement of the shoulder and pelvic girdle muscles, but with no pathognomonic features as in facioscapulohumeral and congenital muscular dystrophies. We report 18-year-old female with progressive shoulder and pelvic muscle weakness. She had marked restrictive pulmonary dysfunction. Echocardiogram showed mild decrease in ejection fraction of 52% (normal: >55%). She was first seen in our hospital at age 2 years with progressive proximal muscle weakness and elevated creatine kinase (CK) level to 15,290 IU/L, with what clinically and pathologically appeared to be steroid-responsive inflammatory myopathy. She responded dramatically to steroid therapy. Progressive proximal muscle weakness began again at age 8 years. Serum CK was 14,910 IU/L. She was wheelchair-bound by age 12. Muscle biopsy showed dystrophic changes without inflammation with reduced immunoreactivity to an antibody against sugar chain (VIA4-1) of alpha-dystroglycan. On laminin overlay assay, there was a nearly complete loss of laminin-binding activity to alpha-dystroglycan. Genetic analysis of fukutin-related protein (FKRP) gene revealed a novel compound heterozygous mutation of c.823C>T (p.R275C) and c.948delC, confirming the diagnosis of LGMD2I, the first reported case in East Asia.

• Authors: Yi-Ching Lin, Terumi Murakami, Yukiko K Hayashi, Ichizo Nishino, Ikuya Nonaka, Chung-Yee Yuo, Yuh-Jyh Jong
• Journal: Brain & development (Brain Dev) Vol. 29 Issue 4 Pg. 234-8 (May 2007) ISSN: 0387-7604 [Print] Netherlands
• PMID: 17055682 (Publication Type: Case Reports, Journal Article)

Chemical References

• Proteins
• FKRP protein, human
• Pentosyltransferases

Topics

• Adolescent
• DNA Mutational Analysis
• Female
• Humans
• Muscular Dystrophies, Limb-Girdle (genetics)
• Mutation
• Pentosyltransferases
• Proteins (genetics)
• Taiwan