GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.
| Autor: | Chrisman C; Department of Neurology, Neuromuscular Medicine, Banner University Medical Center-Phoenix, Phoenix, AZ.; Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ; and., McKeever PE; Neuropathology, Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2020 Dec; Vol. 22 (2), pp. 90-96. |
| DOI: | 10.1097/CND.0000000000000317 |
| Abstrakt: | We report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findings. Both patients described slowly progressive signs of distal-predominant weakness since adolescence that had been dismissed as "clumsiness." Exam and electrodiagnostic testing suggested a predominately distal myopathy. Muscle biopsy of the left tibialis anterior revealed rimmed vacuoles and, interestingly, also had characteristic features of a myofibrillar myopathy. Genetic testing confirmed a diagnosis of autosomal recessive GNE myopathy in both patients. GNE myopathy has not typically been considered a myofibrillar myopathy, but this case raises possibilities worthy of further exploration. It is possible that the unique combination of pathogenic alleles in GNE reported here has led to a novel form of GNE myopathy with muscle biopsy showing characteristic features of GNE myopathy and myofibrillar myopathy. The other possibility is that myofibrillar myopathy may be a more common feature of GNE myopathies than classically described. |
| Databáze: | MEDLINE |
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