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Scientific Papers
ENMC | Dr. Wallgren-Pettersson

100+ Papers

I have acquired a list of over 100 citations on nemaline myopathy. Most with abstracts. If anyone would like a copy sent via email, for their doctor or consultant etc., then just ask me.
For a list of over 570 scientific papers, go to http://www.scirus.com/srsapp/
davidmcd_@hotmail.com

I have a copy of Nemaline myopathy : Current Concepts
KN North, NG Laing, C Wallgren-Pettersson and the ENMC International Consortium on Nemaline Myopathy
Key words: nemaline, myopathy, congenital myopathy, tropomyosin, a-actinin
Published in 1999
Email me at davidmcd_@hotmail.com for a copy in Microsoft Word or plain text format.

Papers referring to pregnancy

For women with NM, the following papers will be of use to their doctor.

Citation 1
Unique Identifier 95389851
Title:
Pregnancy and delivery in congenital nemaline myopathy.
Authors Wallgren-Pettersson C. Hiilesmaa VK. Paatero H. Institution Department of Medical Genetics, University of Helsinki, Finland.
Source Acta Obstetricia et Gynecologica Scandinavica. 74(8):659-61, 1995 Sep.

Citation 2
Unique Identifier 95069128
Title:
Anaesthetic complications in a pregnant patient with nemaline myopathy.
Authors Stackhouse R. Chelmow D. Dattel BJ. Institution Department of Anaesthesia, San Francisco General Hospital, CA 94110. Source Anaesthesia & Analgesia. 79(6):1195-7, 1994 Dec.

Miscellaneous references found on the internet

Severe Congenital Nemaline Myopathy:
A Personal Perspective Karen Marinone, RN
ABSTRACT
Severe congenital nemaline myopathy is an uncommon but often fatal muscular disease. Dealing with this disorder can be devastating to both family and NICU staff. It can be difficult to diagnose because symptoms often mimic symptoms of a postasphyxial insult. Continued dependence on mechanical ventilation in the absence of severe brain damage or other cardiac or respiratory disease may be the only indication of this disorder. This article records the author’s personal experience of caring for an infant with the severe form of nemaline myopathy.
Neonatal Network, February 1998 Vol. 17, No. 1

Recent research developments:
www.mdausa.org October 2000

Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops.
A new lethal case of nemaline myopathy is reported. medl9798.html

http://www.york.ac.uk/depts/biol/gsp/respro01.htm#jcs
Thin filament regulation of muscle contraction: a molecular genetic approach
Muscle contraction is regulated by Ca2+ release and its binding to the tropomyosin-troponin complex. This project will investigate the molecular interactions involved using mutants of the indirect flight muscles of Drosophila melanogaster an experimental system my laboratory has pioneered. The student will select new mutants by looking for enhancers and suppressors of existing mutations. The major analysis will be flight-testing, EM of muscle structure and protein expression (in E. coli) either by in vitro motility assays to measure the velocity and fraction of thin filaments moving at different pCa or by a series of biochemical assays.

References
Bing et al. (1998) J. Biol. Chem. 273, 15016-15021
Naimi et al. (2001). Mol. Biol. Cell 12, 1529-1539

Nebulin
A recent reference you can use, is the one where we describe the nebulin gene:
Pelin K, Hilpelä P, Sewry C , Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang M-L, Centner T, Hanefeld F, Odent S, Fardeau M, UrtizbereaJA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc. Natl. Acad. Sci. USA, 1999;96:2305-2310.

Maybe, you would like to add the references to the published workshop reports, unless you think they are too full of medical mumbo-jumbo.
Wallgren-Pettersson C, Laing NG: Workshop report: 40th ENMC international workshop: Nemaline myopathy. 2-4 February 1996, Naarden, The Netherlands. Neuromuscular. Disorder. 1996;6:389-391.

Wallgren-Pettersson C, Beggs AH, Laing NG: Workshop report: 51st ENMC International Workshop: Nemaline myopathy. 13-15 June 1997, Naarden, The Netherlands. Neuromusc. Disord. 1998;8:53-56.

Nebulin is normally expressed in nemaline myopathy.
90970433.htm Springer LINK: Acta Neuropathologica
Abstract Volume 97 Issue 5 (1999) pp 433-436

Severe Congenital Nemaline Myopathy:
A Personal Perspective Karen Marinone, RN
ABSTRACT
Severe congenital nemaline myopathy is an uncommon but often fatal muscular disease. Dealing with this disorder can be devastating to both family and NICU staff. It can be difficult to diagnose because symptoms often mimic symptoms of a postasphyxial insult. Continued dependence on mechanical ventilation in the absence of severe brain damage or other cardiac or respiratory disease may be the only indication of this disorder. This article records the author’s personal experience of caring for an infant with the severe form of nemaline myopathy.
Neonatal Network, February 1998 Vol. 17, No. 1

Recent research developments:
www.mdausa.org October 2000

Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops.
A new lethal case of nemaline myopathy is reported. medl9798.html

Amish Report
Genetics/ashg99/f1430.htm