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" disputable and added some enigma to why distal muscles are preferentially affected. Nevertheless, with the clarification of the molecular basis of specific conditions, additional clues have been uncovered to understand the mechanism of each condition. This review will give a synopsis of the common distal myopathies, presenting salient facts regarding the clinical, pathological, and molecular aspects of each disease. Distal myopathy with rimmed vacuoles, or Nonaka myopathy, will be discussed in more detail.
Malicdan
May Christine V
MC
Department of Neuromuscular Research, National Institutes of Neurosciences, National Center of Neurology and Psychiatry, Tokyo, Japan.
Nonaka
Ikuya
I
D000818:Animals; D049310:Distal Myopathies / Q000145:classification / Q000235:genetics / Q000473:pathology*; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics; D014617:Vacuoles / Q000473:pathology* / Q000648:ultrastructure
D009124:Muscle Proteins