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Actin-Related Myopathy Without Any Missense Mutation in the ACTA1 Gene

Department of Neuropathology Johannes Gutenberg University Mainz,Germany, goebel{at}neuropatho.klinik.uni-mainz.de.

Knut Brockmann, MD

Department of Neuropaediatrics Georg-August University Göttingen, Germany

Carsten G. Bönnemann, MD

Division of Neurology The Children's Hospital of Philadelphia University of Pennsylvania School of Medicine Philadelphia, PA

Irene A. P. Warlo, HT

Department of Neuropathology Johannes Gutenberg University Mainz,Germany

Folker Hanefeld, MD

Department of Neuropaediatrics Georg-August University Göttingen, Germany

Siegfried Labeit, MD

Department of Anaesthesiology University Hospital Mannheim Mannheim, Germany

Hayley J. Durling, BSc Hons

Molecular Neurogenetics Laboratory Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Australian Neuromuscular Research Institute Centre for Medical Research, West Australian Institute for Medical Research Queen Elizabeth, Medical Centre Nedlands, Western Australia

Nigel G. Laing, PhD

Molecular Neurogenetics Laboratory Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Australian Neuromuscular Research Institute Centre for Medical Research, West Australian Institute for Medical Research Queen Elizabeth, Medical Centre Nedlands, Western Australia

Actinopathies are defined by missense mutations in the ACTA1 gene coding for sarcomeric actin, of which some 70 families have, so far, been identified. Often, but not always, muscle fibers carry large patches of actin filaments. Many such patients also have nemaline myopathy, qualifying actinopathies as a subgroup of nemaline myopathies. This article concerns a then newborn, now 2¹/2-year-old boy, the first and single child of nonconsanguineous parents, who was born floppy, requiring immediate postnatal assisted ventilation. A quadriceps muscle biopsy revealed large patches of thin myofilaments reacting at light and electron microscopic levels with antibodies against actin but only a few sarcoplasmic rods and no intranuclear rods. DNA analysis of the patient's and both parents' blood did not reveal any missense mutation in the ACTA1 gene. Thus, this congenital myopathy can be caused by a new type of ACTA1 gene mutation, a new non-ACTA1 gene mutation, or no mutation at all, designating it as an actin-related myopathy, perhaps a new type of congenital myopathy and a new member of protein aggregate myopathies marked by aggregation of proteins within muscle fibers, among them desminopathies, -ß crystallinopathies, other desmin-related myopathies (also termed myofibrillar myopathies), actinopathies and, now, actin-related myopathies. (J Child Neurol 2004;19:149—153).

Journal of Child Neurology, Vol. 19, No. 2, 149-153 (2004)
DOI: 10.1177/08830738040190021201


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				H. H. Goebel, K. Brockman, C. G. Bonnemann, I. A.P. Warlo, F. Hanefeld, S. Labeit, H. J. Durling, and N. G. Laing Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1, Which Has Previously Been Associated With Actinopathy J Child Neurol, June 1, 2006; 21(6): 545 - 545. [PDF]

				H. H. Goebel, K. Brockman, C. G. Bonnemann, I. A.P. Warlo, F. Hanefeld, S. Labeit, H. J. Durling, and N. G. Laing Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1, Which Has Previously Been Associated With Actinopathy J Child Neurol, June 1, 2006; 21(6): 545 - 545. [PDF]

				H. H. Goebel, K. Brockman, C. G. Bonnemann, I. A.P. Warlo, F. Hanefeld, S. Labeit, H. J. Durling, and N. G. Laing Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1, Which Has Previously Been Associated With Actinopathy J Child Neurol, June 1, 2006; 21(6): 545 - 545. [PDF]