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Article

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

Journal of neurology - 1 Oct 2012

Cardani Rosanna, Giagnacovo Marzia, Botta Annalisa, Rinaldi Fabrizio, Morgante Alessandra, Udd Bjarne, Raheem Olayinka, Penttilä Sini, Suominen Tiina, Renna Laura V, Sansone Valeria, Bugiardini Enrico, Novelli Giuseppe, Meola Giovanni

Abstract excerpt

Myotonic dystrophy type 2 (DM2) is a common adult onset muscular dystrophy caused by a dominantly transmitted (CCTG)( n ) expansion in intron 1 of the CNBP gene. In DM2 there is no obvious evidence for an intergenerational increase of expansion size, and no congenital cases have been confirmed. We describe the clinical and histopathological features, and provide the genetic and...

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Source

Identifiers

PMID: 22407275
DOI: 10.1007/s00415-012-6462-1

Genes

CLCN1
MBNL1
CNBP
INSR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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