Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles
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چکیده
منابع مشابه
Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles.
Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies. The identification of few causative genes made the broad classification of these diseases under "distal myopathies" disputab...
متن کاملDistal myopathies.
Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement. Accurate diagnosis of these relatively uncommon conditions can be challenging for the clinician, because of both the unusual phenotype and the significant overlap in the clinica...
متن کاملProteasomes in distal myopathy with rimmed vacuoles.
In a previous report we suggested that muscle fibers in distal myopathy with rimmed vacuoles (DMRV) were degraded by both lysosomal proteolysis (cathepsins) and Ca2+-dependent, nonlysosomal proteolysis (calpain). Given recent evidence of abnormal ubiquitin accumulation in rimmed vacuoles, we examined the role of the ATP-ubiquitin-dependent proteolytic pathway (proteasomes) in myofiber degradati...
متن کاملThe ubiquitin-proteasome pathway in distal myopathy with rimmed vacuoles.
The protein synthesis and degradation of eukaryotic cells must be highly selective and tightly regulated to maintain cellular homeostasis. Like other tissues, muscle contains multiple pathways for protein breakdown including the lysosomal, Ca2+-dependent, and cytosolic ATP-dependent and independent proteolytic systems. These pathways are considered to play important roles not only in cellular d...
متن کاملAquaporin-4 expression in distal myopathy with rimmed vacuoles
BACKGROUND Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles. To date, the role of aquaporin-4 water channel in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy has not been studied. C...
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ژورنال
عنوان ژورنال: Neurology India
سال: 2008
ISSN: 0028-3886
DOI: 10.4103/0028-3886.43450