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Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy.

Wiktoria Radziwonik-FrączykEwelina Elert-DobkowskaJolanta KubalskaIwona StępniakMarta LipowskaAnna Potulska-ChromikAnna Sułek
Published in: Postepy psychiatrii neurologii (2024)
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.
Keyphrases
  • muscular dystrophy
  • case report
  • duchenne muscular dystrophy
  • early onset
  • genetic diversity