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Article

Caveolinopathies in Greece.

The neurologist - 1 Jul 2015

Papadopoulos Constantinos, Papadimas George K, Kekou Kyriaki, Spengos Konstantinos, Svigou Maria, Kitsiou-Tzeli Sofia, Manta Panagiota

Abstract excerpt

INTRODUCTION: Mutations in the CAV3 gene are usually inherited in an autosomal dominant manner and lead to distinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation. PATIENTS AND METHODS: The features of the first patients with caveolin-3 deficiency from Greece are presented. Patients' phenotypes ranged from asymptomatic creatine kinase...

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Source

Identifiers

PMID: 26185955
DOI: 10.1097/NRL.0000000000000036

Genes

CAV3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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