Myopathy, Myasthenic Syndrome, and Epidermolysis Bullosa Simplex Due to Plectin Deficiency
Myopathy, Myasthenic Syndrome, and Epidermolysis Bullosa Simplex Due to Plectin Deficiency
About this item
Full title
Author / Creator
Publisher
Hagerstown, MD: American Association of Neuropathologists, Inc
Journal title
Language
English
Formats
Publication information
Publisher
Hagerstown, MD: American Association of Neuropathologists, Inc
Subjects
More information
Scope and Contents
Contents
Plectin, an intermediate filament linking protein, is normally associated with the sarcolemma, nuclear membrane, and intermyofibrillar network in muscle, and with hemisdesmosomes in skin. A 20-year-old female with epidermolysis bullosa simplex since birth had progressive ocular, facial, limb, and trunkal weakness and fatigability since age 9, fivef...
Alternative Titles
Full title
Myopathy, Myasthenic Syndrome, and Epidermolysis Bullosa Simplex Due to Plectin Deficiency
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Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_69961284
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69961284
Other Identifiers
ISSN
0022-3069
E-ISSN
1554-6578
DOI
10.1097/00005072-199908000-00006
