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

H.H. Goebel; K. Brockman; C.G. Bonnemann; I.A. Warlo; F. Hanefeld; S. Labeit; H.J. Durling; Nigel Laing

doi:10.2310/7010.2006.00089

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

H.H. Goebel, K. Brockman, C.G. Bonnemann, I.A. Warlo, F. Hanefeld, S. Labeit, H.J. Durling, Nigel Laing

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

Research output: Contribution to journal › Review article

8 Citations (Web of Science)

Original language	English
Pages (from-to)	545
Journal	Journal of Child Neurology
Volume	21
DOIs	https://doi.org/10.2310/7010.2006.00089
Publication status	Published - 2006

Access to Document

10.2310/7010.2006.00089

Cite this

Goebel, H. H., Brockman, K., Bonnemann, C. G., Warlo, I. A., Hanefeld, F., Labeit, S., Durling, H. J., & Laing, N. (2006). 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. Journal of Child Neurology, 21, 545. https://doi.org/10.2310/7010.2006.00089

@article{549df580bc044befb62f8f48f4fc1a88,

title = "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",

author = "H.H. Goebel and K. Brockman and C.G. Bonnemann and I.A. Warlo and F. Hanefeld and S. Labeit and H.J. Durling and Nigel Laing",

year = "2006",

doi = "10.2310/7010.2006.00089",

language = "English",

volume = "21",

pages = "545",

journal = "Journal of Child Neurology",

issn = "0883-0738",

publisher = "SAGE Publications Ltd",

}

Goebel, HH, Brockman, K, Bonnemann, CG, Warlo, IA, Hanefeld, F, Labeit, S, Durling, HJ & Laing, N 2006, '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', Journal of Child Neurology, vol. 21, pp. 545. https://doi.org/10.2310/7010.2006.00089

TY - JOUR

T1 - 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

AU - Goebel, H.H.

AU - Brockman, K.

AU - Bonnemann, C.G.

AU - Warlo, I.A.

AU - Hanefeld, F.

AU - Labeit, S.

AU - Durling, H.J.

AU - Laing, Nigel

PY - 2006

Y1 - 2006

U2 - 10.2310/7010.2006.00089

DO - 10.2310/7010.2006.00089

M3 - Review article

SN - 0883-0738

VL - 21

SP - 545

JO - Journal of Child Neurology

JF - Journal of Child Neurology

ER -