Altered Expression of ARPP Protein in Skeletal Muscles of Patients with Muscular Dystrophy, Congenital Myopathy and Spinal Muscular Atrophy

Pathobiology ◽  
2004 ◽  
Vol 71 (1) ◽  
pp. 43-51 ◽  
Author(s):  
Chisato Nakada ◽  
Yoshiyuki Tsukamoto ◽  
Akira Oka ◽  
Ikuya Nonaka ◽  
Kenzo Sato ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Spinal Muscular Atrophy ◽  
Skeletal Muscles ◽  
Muscular Atrophy ◽  
Congenital Myopathy ◽  
Altered Expression

Becker muscular dystrophy or spinal muscular atrophy?—Dystrophin studies resolve conflicting results of electromyography and muscle biopsy

1991 ◽  
Vol 1 (3) ◽  
pp. 195-200 ◽  
Author(s):  
Thomas D. McDonald ◽  
Rossella Medori ◽  
David S. Younger ◽  
Hai W. Chang ◽  
Carlo Minetti ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Spinal Muscular Atrophy ◽  
Muscle Biopsy ◽  
Muscular Atrophy ◽  
Becker Muscular Dystrophy

scholarly journals Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach

2007 ◽  
Vol 65 (1) ◽  
pp. 73-76 ◽  
Author(s):  
Aline Andrade Freund ◽  
Rosana Herminia Scola ◽  
Raquel Cristina Arndt ◽  
Paulo José Lorenzoni ◽  
Claudia Kamoy Kay ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscular Atrophy ◽  
Hot Spot ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Congenital Myopathy ◽  
Specific Method ◽  
Dystrophin Deficiency ◽  
Muscle Biopsies ◽  
Female Carriers

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3' region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. The cases without deletions, which included the only woman in the study with DMD, had dystrophin deficiency. The symptomatic female carriers had no deletions but had abnormal dystrophin distribution in the sarcolemma (discontinuous immunostains). The following diagnoses were made for the remaining cases without deletions with the aid of a muscle biopsy: spinal muscular atrophy, congenital myopathy; sarcoglycan deficiency and unclassified limb-girdle muscular dystrophy. Dystrophin analysis by immunohistochemistry continues to be the most specific method for diagnosis of DMD/BMD and should be used when no exon deletions are found in the dystrophin gene in the blood.

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