Document Detail

Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies.
MedLine Citation:
PMID:  9224530     Owner:  NLM     Status:  MEDLINE    
Exercise intolerance associated with myalgias, muscle cramps or myoglobinuria may be associated with a dystrophinopathy. A search for abnormal dystrophin expression (using immunohistochemistry, immunoblot and DNA analysis) was carried out in a series of 15 patients. They were selected because they presented exercise intolerance, negative biochemical tests (lipid, glycogen and mitochondrial metabolism) and abnormal immunohistochemistry with at least one anti-dystrophin antibody (anti-Dys 1, rod domain; anti-Dys 2, C terminus; anti-Dys 3, N terminus). Lack of anti-Dys 1 immunoreactivity was seen in three patients and abnormal immunoreactivity with all three anti-dystrophin antibodies in two. Immunoblot confirmed the dystrophinopathy in these five patients only, and multiplex polymerase chain reaction DNA analysis revealed a deletion in the dystrophin gene in two of these patients, affecting the proximal part of the rod domain in one and the distal part of this domain in the other. The clinical, biological and histopathological features of the five patients reported here, together with the previous cases reported in the literature, are described and reveal that exercise intolerance associated with dystrophinopathy displays characteristic clinical, biological and immunohistochemical features and defines a new dystrophinopathy phenotype. The absence of staining in the rod domain provides a secure diagnosis of this syndrome. Dystrophinopathy is one etiology of idiopathic myoglobinuria, requiring genetic counseling.
D Figarella-Branger; A M Baeta Machado; G A Putzu; P Malzac; M A Voelckel; J F Pellissier
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta neuropathologica     Volume:  94     ISSN:  0001-6322     ISO Abbreviation:  Acta Neuropathol.     Publication Date:  1997 Jul 
Date Detail:
Created Date:  1997-08-19     Completed Date:  1997-08-19     Revised Date:  2007-11-09    
Medline Journal Info:
Nlm Unique ID:  0412041     Medline TA:  Acta Neuropathol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  48-53     Citation Subset:  IM    
Department of Pathology and Neuropathology, Hôpital de la Timone, Marseille, France.
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MeSH Terms
Dystrophin / chemistry*,  immunology
Exercise Tolerance*
Middle Aged
Muscle Cramp / metabolism,  physiopathology
Muscle, Skeletal / metabolism,  pathology
Muscular Dystrophies / metabolism,  physiopathology
Myoglobinuria / metabolism,  physiopathology
Rhabdomyolysis / metabolism,  pathology*,  physiopathology*
Reg. No./Substance:

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