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Article

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

American journal of human genetics - 1 Jan 2007

Agrawal Pankaj B, Greenleaf Rebecca S, Tomczak Kinga K, Lehtokari Vilma-Lotta, Wallgren-Pettersson Carina, Wallefeld William, Laing Nigel G, Darras Basil T, Maciver Sutherland K, Dormitzer Philip R, Beggs Alan H

Abstract excerpt

Nemaline myopathy (NM) is a congenital myopathy characterized by muscle weakness and nemaline bodies in affected myofibers. Five NM genes, all encoding components of the sarcomeric thin filament, are known. We report identification of a sixth gene, CFL2, encoding the actin-binding protein muscle cofilin-2, which is mutated in two siblings with congenital myopathy. The proband's muscle contained characteristic...

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Identifiers

PMID: 17160903
DOI: 10.1086/510402
PMCID: PMC1785312

Genes

CFL2

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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.

Related research

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Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.PMID 17160903Read ↗

Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.Semantic proximity Read ↗

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenanceSemantic proximity Read ↗

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Cofilin Loss in Drosophila Muscles Contributes to Muscle Weakness through Defective Sarcomerogenesis during Muscle Growth.Semantic proximity Read ↗

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.Semantic proximity Read ↗

Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.Semantic proximity Read ↗

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscleSemantic proximity Read ↗

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A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.Semantic proximity Read ↗

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