[Immunohistochemical studies of a variant of congenital muscular dystrophy].

Abstract

Three Japanese patients from 2 families had a phenotype indistinguishable from that of Fukuyama-type congenital muscular dystrophy (FCMD). A full mutational analysis of the fukutin gene, however, revealed neither a 3 kb insertion (the Japanese founder mutation) nor a point mutation. A RT-PCR analysis of one of the patients revealed a normal expression of the fukutin transcript, suggesting that they have a new variant of CMD. An immunohistochemical analysis of the muscle of one case showed that the immunoreaction to alpha-dystroglycan (DG) was barely detectable on the surface membranes of muscle fibers. Immunoreactions to beta-DG, dystrophin, laminin alpha-2 chain and sarcoglycan were normal. These findings raise the possibility that the abnormality of alpha-DG is integral to the pathology seen in this variant of CMD. Analysis of POMGnT1 gene, which is causative of muscle-eye-brain disease, revealed no mutation in this case.

• Authors: Mieko Yoshioka, Kazuma Sugie, Ichizo Nishino, Tatsushi Toda
• Journal: No to hattatsu = Brain and development (No To Hattatsu) Vol. 36 Issue 1 Pg. 55-9 (Jan 2004) ISSN: 0029-0831 [Print] Japan
• PMID: 14737865 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Cytoskeletal Proteins
• DAG1 protein, human
• FKTN protein, human
• Membrane Glycoproteins
• Membrane Proteins
• Proteins
• Dystroglycans
• N-Acetylglucosaminyltransferases
• protein O-mannose beta-1,2-N-acetylglucosaminyltransferase

Topics

• Child, Preschool
• Cytoskeletal Proteins (deficiency)
• Dystroglycans
• Humans
• Immunohistochemistry
• Male
• Membrane Glycoproteins (deficiency)
• Membrane Proteins
• Muscle, Skeletal (metabolism)
• Muscular Dystrophies (congenital, etiology)
• N-Acetylglucosaminyltransferases
• Proteins