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Article

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

PloS one - 1 Jan 2011

Koutsopoulos Olga S, Koch Catherine, Tosch Valerie, Böhm Johann, North Kathryn N, Laporte Jocelyn

Abstract excerpt

The large GTPase dynamin 2 is a key player in membrane and cytoskeletal dynamics mutated in centronuclear myopathy (CNM) and Charcot-Marie Tooth (CMT) neuropathy, two discrete dominant neuromuscular disorders affecting skeletal muscle and peripheral nerves respectively. The molecular basis for the tissue-specific phenotypes observed and the physiopathological mechanisms linked to dynamin 2 mutations are not well...

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Source

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Identifiers

PMID: 22096584
DOI: 10.1371/journal.pone.0027498
PMCID: PMC3214065

Genes

BIN1

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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Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.PMID 22096584Read ↗

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