+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers

, : A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers. Rinsho Shinkeigaku 44(10): 699-702

We report a 40-year-old man who noticed difficulty in standing on his tiptoe from approximately 36 years-old. He presented with selective calf muscle weakness on flexion. The serum creatine kinase (CK) level slightly increased to 569IU/l. Muscle computed tomography (CT) revealed selective gastrocnemius and soleus muscle atrophy with fat tissue replacement. A biopsy of the left gastrocnemius muscle revealed a marked variation in muscle fiber size and some necrotic and regenerating fibers. Immunohistochemical analysis using an anti-dysferlin antibody showed a faint and irregular immunostaining of the muscle surface membrane and abnormal immunoreactive depositions in the cytoplasm, although normal dysferlin content was detected by Western blotting. The sequence analysis of all exons of the dysferlin gene revealed no responsible mutations. The case had clinical and pathological findings similar to those of Miyoshi myopathy. The present study indicates that there may be a secondary abonormality of dysferlin derived from some other factors in patients with clinical and pathological findings similar to those of Miyoshi myopathy. The mechanism of dysferlin expression should be elucidated to obtain a conclusive pathogenetic mechanism underlying this disorder.


PMID: 15568488

Other references

Patel, D.J.; Knight, C.J.; Holdright, D.R.; Mulcahy, D.; Clarke, D.; Wright, C.; Purcell, H.; Fox, K.M., 1997: Pathophysiology of transient myocardial ischemia in acute coronary syndromes. Characterization by continuous ST-segment monitoring. Background. Transient ischemia in stable coronary disease peaks in the morning, reflecting increased myocardial oxygen demand and coronary vasomotor tone after waking. In acute coronary syndromes, however, ischemia may result from transient thromb...

Saifeddine, M.; Laniyonu, A.; Dimaio, J.; Hollenberg, M.D., 1995: Actions of a putative thrombin receptor antagonist in gastric, vas deferens and vascular contractile assays. Journal of Investigative Medicine 43(SUPPL 2): 208A

Anonymous, 1996: Competitivity demands active restructuring in Germany. A report on the Molkereitagung des Genossenschaftsverbandes Berlin-Hannover [Dairy Conference of the Berlin-Hannover Cooperative Association] in Celle, Germany, on 25 October 1996, is given. Subjects discussed at the conference included: the futur...

Mastsumoto, K.; Saito, H.; Sakaguchi, N.; Akasawa, A.; Ebisawa, M.; IIkura, Y., 1993: Functional analysis of Fc-gamma receptors on mouse bone marrow-derived mast cells. Journal of Allergy & Clinical Immunology 91(1 PART 2): 159

Najafi, N.; Van de Velde, A.; Poelaert, J., 2011: Potential risks of hemolysis after short-term administration of analgesics in children with glucose-6-phosphate dehydrogenase deficiency. Evaluate the risk of hemolysis in children with glucose-6-phosphate dehydrogenase (G6PD) deficiency after short-term administration of analgesics, such as paracetamol, ibuprofen, tramadol, sufentanil, and parecoxib. Study design: This was a prospe...

Jennings, I.W.; Gresham, G.A.; Howard, A.N., 1965: Pulmonary lipidosis in laboratory rats. Journal of the Reticuloendothelial Society 2(2): 130-140

Finch, A.J.; Deardorff, P.A.; Montgomery, L.E., 1974: Reflection-impulsivity: reliability of the Matching Familiar Figures Test with emotionally disturbed children. Psychological Reports 35(3): 1133-1134

Bressau, G., 1980: Evaluation of the residue situation of plant treatment products in allowance procedures in view of consumer health. Chemie in der Landwirtschaft = Chemistry in agriculture: ub 1980) 71-84

Etheridge, Richard, 1961: Additions to the herpetological fauna of Isla Cerralvo in the Gulf of California, Mexico. Scaphiopus couchi, Phyllodactylus unctus, and Callisaurus draconides draconides are discussed as new records for this island, which is the southernmost one in the Gulf of California, with notes also on several other spp. of snakes.

Grigorjew, A.; Swiokło, K.; Dyda, M.; Kuźniar, A., 1993: Stab wound of the heart and liver. Wiadomosci Lekarskie 46(9-10): 388-389