| Autor: |
Radziwonik-Frączyk, Wiktoria, Elert-Dobkowska, Ewelina, Kubalska, Jolanta, Stępniak, Iwona, Lipowska, Marta, Potulska-Chromik, Anna, Sułek, Anna |
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| Zdroj: |
Postepy Psychiatrii i Neurologii / Advances in Psychiatry & Neurology; 2024, Vol. 33 Issue 2, p109-114, 6p |
| Abstrakt: |
Purpose: Muscular dystrophy is a group of heterogeneous diseases causing progressive muscle weakness and atrophy. Many types have been defined, including Duchenne/Becker, myotonic, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies. This study aims to present the first patient with both a homozygous CAPN3 mutation and a CCTG expansion in the CNBP gene, which suggests the co-occurrence of two diseases in a single patient. Case description: Homozygous pathogenic variant c.550delA (p.Thr184ArgfsTer36) in the CAPN3 gene, as well as a heterozygous expansion of a CCTG repeat of the CNBP gene, were identified in a single patient. Segregation analysis showed both maternal and paternal heterozygous carriers for CAPN3 mutation, and a maternally inherited CNBP expansion. Comment: In general, the co-occurrence of two diseases in a single patient is considered as uncommon, although possible, and therefore it should be taken into consideration in the populations with a relatively high prevalence of myotonic dystrophy type 2. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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