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Article

Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.

Human molecular genetics - 15 Sept 2015

Li Frank, Buck Danielle, De Winter Josine, Kolb Justin, Meng Hui, Birch Camille, Slater Rebecca, Escobar Yael Natelie, Smith John E, Yang Lin, Konhilas John, Lawlor Michael W, Ottenheijm Coen, Granzier Henk L

Abstract excerpt

Nebulin is a giant filamentous protein that is coextensive with the actin filaments of the skeletal muscle sarcomere. Nebulin mutations are the main cause of nemaline myopathy (NEM), with typical adult patients having low expression of nebulin, yet the roles of nebulin in adult muscle remain poorly understood. To establish nebulin's functional roles in adult muscle, we studied a novel conditional nebulin KO (Neb...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26123491
DOI: 10.1093/hmg/ddv243
PMCID: PMC4550825

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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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Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.PMID 26123491Read ↗

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