Surprising genotype expressed as a common limb-girdle muscular dystrophy
| Autor: | Liviu Cozma, Maria Barsevschi, Cristina Mitu, Alexandra Bastian, Bogdan Ovidiu Popescu |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Romanian Journal of Neurology, Vol 16, Iss 2, Pp 71-73 (2017) |
| Druh dokumentu: | article |
| ISSN: | 1843-8148 2069-6094 |
| DOI: | 10.37897/RJN.2017.2.6 |
| Popis: | Limb-girdle muscular dystrophies (LGMDs) comprise a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability. We describe the case of a 56-year-old male with a history and clinical picture suggestive for LGMD with skeletal and cardiologic involvement. Histopathological examination shows a severe dystrophic picture and genetics testing revealed a unique never reported genotype association: a homozygous variant in the DES gene, associated with myofibrillar myopathy type 1 and LGMD2R, as well as a heterozygous variant in the CRYAB gene, associated with myofibrillar myopathy type 2, both of which could be responsible for the clinical picture. |
| Databáze: | Directory of Open Access Journals |
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