Nemaline Myopathy Support Group

Research

Scientific papers

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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. In 2009, researchers heard from a few mothers-to-be who said they felt stronger during pregnacy. And one documented case of a woman feeling stronger when taking progesterone while pregnant. The ENMC will be very interested to hear from any women with NM who notices an increase in strength.

  • 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.
  • Useful links:
    www.theFetus.net
    Paper on pregnancy

Papers available on the internet

2010

New clues about the basis of muscle wasting disease - Prof. Laura Machesky

2006

Feeding and speech difficulties in typical congenital Nemaline Myopathy

2001

Nemaline Myopathy: A clinical study of 143 cases

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

1999

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)

1989

A New Treatment for Congenital Nonprogressive Nemaline Myopathy (.pdf)
Dwight Kalita Ph.D. and his son have nemaline myopathy

Supporting MAP Nemaline

In 2010 Meriel (aged 21 months) was diagnosed with Nemaline myopathy, a very rare muscle condition with no treatment or cure, which changed the lives of her family overnight. Setting up a family fund like MAP Nemaline is a great way to fundraise for Muscular Dystrophy UK to keep our vital research moving forward.

Learn more »»