Pediatric Neurology
Volume 24, Issue 5 , Pages 373-378 , May 2001

Fukuyama muscular dystrophy associated with lack of C-terminal domain of dystrophin

  • Nobutada Tachi, MD, PhD

      Affiliations

    • School of Health Sciences; Sapporo Medical University; Sapporo, Japan
    • Corresponding Author InformationCommunications should be addressed to: Dr. Tachi; School of Health Science; Sapporo Medical University; S1 W16 Chuo-ku; Sapporo 060, Japan
    • ,
  • Shunzo Chiba, MD, PhD

      Affiliations

    • Department of Pediatrics; Sapporo Medical University; Sapporo, Japan
    • ,
  • Masafumi Matsuo, MD, PhD

      Affiliations

    • International Center for Medical Research; Kobe University School of Medicine; Kobe, Japan
    • ,
  • Kiichiro Matsumura, MD, PhD

      Affiliations

    • Department of Neurology and Neuroscience; Teikyo University School of Medicine; Teikyo, Japan
    • ,
  • Kayoko Saito, MD, PhD

      Affiliations

    • Department of Pediatrics; Tokyo Women’s Medical College; Tokyo, Japan

Received 25 September 2000 ,Accepted 3 January 2001.

References 

  1. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type (Clinical, genetic and pathological considerations). Brain Dev. 1981;3:1–29
  2. Toda T, Segawa M, Nomura Y, et al.  Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 1993;5:283–286
  3. Toda T, Ikegawa S, Okui K, et al.  Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy (Evidence for strong linkage disequilibrium). Am J Hum Genet. 1994;55:946–950
  4. Kobayashi K, Nakahori Y, Mizuno K, et al.  Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD). Hum Genet. 1998;103:323–327
  5. Kobayashi K, Nakahori Y, Miyake M, et al.  An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394:388–392
  6. Hoffman EP, Brown RH, Kunkel LM. Dystrophin (The protein product of the Duchenne muscular dystrophy locus). Cell. 1987;51:919–928
  7. Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature. 1990;345:315–331
  8. Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M. From dystrophinopathy to sarcoglycanopathy (Evolution of a concept of muscular dystrophy). Muscle Nerve. 1998;21:421–438
  9. Matsumura K, Campbell KP. Dystrophin-glycoprotein complex (Its role in the molecular pathogenesis of muscular dystrophies). Muscle Nerve. 1994;17:2–15
  10. Hayashi YK, Engvall E, Arikawa-Hirasawa E, et al.  Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci. 1993;119:53–64
  11. Beggs AH, Hoffman EP, Snyder JR, et al.  Exploring the molecular basis for variability among patients with Becker muscular dystrophy (Dystrophin gene and protein studies). Am J Hum Genet. 1991;49:54–67
  12. Chamberlain J. The dynamics of dystroglycan. Nat Genet. 1999;23:256–258
  13. Feener CA, Koenig M, Kunkel LM. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature. 1989;338:509–511
  14. Bies RD, Phelps SF, Cortez MD, Roberts R, Caskey CT, Chamberlain JS. Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucleic Acids Res. 1992;20:1725–1731
  15. Jung D, Yang B, Meyer J, Chamberlain JS, Campbell KP. Identification and characterization of the dystrophin anchoring site on β-dystroglycan. J Biol Chem. 1995;270:27305–27310
  16. Yang B, Jung D, Rafael JA, Chamberlain JS, Campbell KP. Identification of α-syntrophin binding to syntrophin triplet, dystrophin, and utrophin. J Biol Chem. 1995;270:4975–4978
  17. Rafael JA, Cox GA, Corrado K, Jung D, Cambell KP, Chamberlain JS. Forced expression of dystrophin deletion constructs reveals structure-function correlations. J Cell Biol. 1996;134:93–102
  18. Cote PD, Moukhles H, Lindenbaum M, Carbonetto ?. Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses. Nat Genet 1999;23:338–42.

PII: S0887-8994(01)00241-7

Pediatric Neurology
Volume 24, Issue 5 , Pages 373-378 , May 2001

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