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. davidmcd_@hotmail.com

For a list of over 570 scientific papers, go to http://www.scirus.com/srsapp/

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.

www.theFetus.net
Paper on pregnancy

Adult onset NM

Delayed onset of nemaline myopathy - a case report

Papers available on the internet

With Aggressive Care, Nemaline Myopathy Often Has Good Prognosis

http://www.mdausa.org/publications/Quest/q86resup.cfm

1999
Adult-onset nemaline myopathy: Another cause of dropped head
http://www3.interscience.wiley.com/cgi-bin/abstract/62502942/ABSTRACT?CRETRY=1&SRETRY=0

Mutations in the skeletal muscle -actin gene in patients with actin myopathy and nemaline myopathy
http://www.nature.com/ng/journal/v23/n2/full/ng1099_208.html

Nemaline Myopathy: A Clinical Study of 143 Cases (.pdf)

2000
Alteration of Tropomyosin Function and Folding by a Nemaline Myopathy-Causing Mutation
http://www.biophysj.org/cgi/content/full/79/6/3217

Spinal Anesthesia For Gastrostomy in an Infant with Nemaline Myopathy
http://www.anesthesia-analgesia.org/cgi/content/abstract/91/4/858

2001
Nemaline Myopathy caused by mutations....... (.pdf)

2002
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
http://www.pnas.org/cgi/content/full/96/5/2305

http://www.physoc.org/Proceedings/Abstracts/543P/Files/S111.html (.pdf)

2003
http://www.cmj.org/information/full.asp?id=39

2004
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions (abstract)

http://www.bms.ed.ac.uk/research/others/smaciver/Encyclop/Abp-n/Nebulin.htm

Muscle weakness in a mouse model of nemaline myopathy can be
reversed with exercise and reveals a novel myofiber repair mechanism
http://hmg.oxfordjournals.org/cgi/content/full/13/21/2633

Miscellaneous references found on the internet

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

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