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Article

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

Human molecular genetics - 15 Jun 2002

Berger Philipp, Bonneick Sonja, Willi Susan, Wymann Matthias, Suter Ueli

Abstract excerpt

Mutations in the gene encoding myotubularin-related protein 2 (MTMR2) are responsible for autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe hereditary motor and sensory neuropathy characterized by focally folded myelin sheaths and demyelination. MTMR2 belongs to the myotubularin family, which is characterized by the presence of a phosphatase domain. Myotubularin (MTM), the archetype...

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Source

Identifiers

PMID: 12045210
DOI: 10.1093/hmg/11.13.1569

Genes

MTMR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.PMID 12045210Read ↗

The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.Semantic proximity Read ↗

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Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.Semantic proximity Read ↗

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Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.Semantic proximity Read ↗

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Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelinationSemantic proximity Read ↗

The PTEN and Myotubularin phosphoinositide 3-phosphatases: linking lipid signalling to human disease.Semantic proximity Read ↗

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.Semantic proximity Read ↗

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