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Article

Phenotypic variability and molecular genetics in proximal myotonic myopathy.

Muscle & nerve - 1 May 2015

Papadimas George Konstantinos, Kekou Kiriaki, Papadopoulos Constantinos, Kararizou Evangelia, Kanavakis Emmanuel, Manta Panagiota

Abstract excerpt

INTRODUCTION: Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene. METHODS: We studied the first 16 Greek DM2 patients who had undergone thorough evaluation. RESULTS: The age at diagnosis ranged from 38 to 69 years. The initial symptoms were proximal weakness, myalgias, and myotonia. Clinical myotonia was elicited in 10 patients,...

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Source

Identifiers

PMID: 25186227
DOI: 10.1002/mus.24440

Genes

CNBP

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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.

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