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Article

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.

Acta neuropathologica communications - 29 Aug 2018

Wang Haicui, Schänzer Anne, Kampschulte Birgit, Daimagüler Hülya-Sevcan, Logeswaran Thushiha, Schlierbach Hannah, Petzinger Jutta, Ehrhardt Harald, Hahn Andreas, Cirak Sebahattin

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30157964
DOI: 10.1186/s40478-018-0589-y
PMCID: PMC6114030

Genes

SPEG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.PMID 30157964Read ↗

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Novel SPEG variant cause centronuclear myopathy in ChinaSemantic proximity Read ↗

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SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handlingSemantic proximity Read ↗

A novel zebrafish model of <i>SPEG</i> -related centronuclear myopathy (CNM): characterization and comparison with other CNM model zebrafishSemantic proximity Read ↗

Loss of CENP-F Results in Dilated Cardiomyopathy with Severe Disruption of Cardiac Myocyte Architecture.Semantic proximity Read ↗

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.Semantic proximity Read ↗

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.Semantic proximity Read ↗

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.Semantic proximity Read ↗

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.Semantic proximity Read ↗

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