papers

NMC04 helps the scientists.
To see mention of the NM Convention 2004 published in the Australian science magazine, ask me for a copy of the paper!

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

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

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