Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have studied the immunohistochemical expression of 14 different muscle proteins of the basal lamina, sarcolemma and cytoskeleton in primary sarcoglycanopathies (13 cases) and compared it with Duchenne dystrophy (6 cases) and myositis (5 cases). Sarcolemmal proteins (i.e. 4 sarcoglycans, beta-dystroglycan, dystrophin, beta-spectrin) were reduced both in sarcoglycanopathies and Duchenne dystrophy, because of structural and functional impairment of the plasma membrane. Sarcolemmal proteins are poorly expressed in regenerating fibers of all muscle disorders, due to a developmental delay or to an abnormal assembly. Laminins (alpha2 and beta chains) were preserved in all cases while utrophin was expressed in Duchenne muscle but not in sarcoglycanopathies. Regenerating fibers were studied with different markers (i.e. fetal myosin, desmin, vimentin, laminin alpha1). Fetal myosin positive fibers (as well as desmin and laminin alpha1), were significantly higher in Duchenne dystrophy (25%) than in age-matched sarcoglycanopathies (7%). Vimentin, a marker of early regeneration, was expressed at higher level in sarcoglycanopathies than in Duchenne dystrophy, suggesting in the former a lower extent of regeneration or a shorter regeneration cycle.
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PMID:Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins. 1045 Aug 3

Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related protein gene (FKRP), is one of the most common forms of LGMD in childhood. We describe two patients with LGMD2I and a Duchenne-like phenotype. In addition to the common L276I mutation, both patients had a new mutation in FKRP, L169P and P89L, respectively. Clinical onset was triggered by viral upper respiratory tract infections. In addition to the common dystrophic pattern with a weak immune histochemical staining for alpha-dystroglycan, muscle biopsy showed inflammatory changes. This was especially striking in one of the patients with up-regulation of MHC class 1 antigen, suggestive of myositis. Both patients showed a good clinical response to treatment with prednisolone, which was initiated at daily dosage of 0.35 mg/kg/day. Our results provide evidence for an inflammatory involvement in the pathological expression of LGMD2I and open up the possibility that this disorder could be treatable with corticosteroids.
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PMID:Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. 1744 99