Cystinosis distal myopathy, novel clinical, pathological and genetic features.

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  • Additional Information
    • Source:
      Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE
    • Publication Information:
      Original Publication: Oxford ; New York : Pergamon Press, c1991-
    • Subject Terms:
      Cystinosis*/complications ; Cystinosis*/genetics ; Cystinosis*/pathology ; Distal Myopathies*/etiology ; Distal Myopathies*/genetics ; Distal Myopathies*/pathology; Amino Acid Transport Systems, Neutral/*genetics; Cardiac Myosins/genetics ; Cystine/metabolism ; Family Health ; Female ; Humans ; Male ; Microscopy, Electron ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscle, Skeletal/ultrastructure ; Mutation/genetics ; Myosin Heavy Chains/genetics ; Myosins/metabolism ; Young Adult
    • Abstract:
      Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement. One of the patients was on treatment with Cysteamine for over 12 years but still developed the usual complications of nephropathic cystinosis in his twenties. Novel pathological findings consisting in sarcoplasmic deposits reactive for slow myosin were identified. Three previously known and one novel mutation are reported. Nephropathic cystinosis should be included in the differential diagnosis of distal myopathies in those with early renal failure. Novel clinical and pathological features are reported here contributing to the characterization of the muscle involvement in nephropathic cystinosis.
      (Copyright © 2017 Elsevier B.V. All rights reserved.)
    • Contributed Indexing:
      Keywords: CTNS; Cystinosis; Distal myopathy; Slow myosin
    • Accession Number:
      0 (Amino Acid Transport Systems, Neutral)
      0 (CTNS protein, human)
      0 (MYH7 protein, human)
      48TCX9A1VT (Cystine)
      EC 3.6.1.- (Cardiac Myosins)
      EC 3.6.4.1 (Myosin Heavy Chains)
      EC 3.6.4.1 (Myosins)
    • Publication Date:
      Date Created: 20170621 Date Completed: 20180502 Latest Revision: 20180502
    • Publication Date:
      20240829
    • Accession Number:
      10.1016/j.nmd.2017.05.010
    • Accession Number:
      28629674