Nemaline myopathy: a clinical and genetic review

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1075451

Funding Status
Closed

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Funded Activity Summary

Nemaline myopathy is a neuromuscular condition characterised by muscle weakness, low muscle tone and the finding of nemaline bodies or rods on muscle biopsy. This study encompasses a natural history study of nemaline myopathy, genetic diagnosis and gene discovery using new methods of genetic testing, characterisation of a new disease gene for this condition, and reviewing patient experience with tyrosine, a medication commonly used in patients with nemaline myopathy.

Funded Activity Details

Start Date: 01-01-2014

End Date: 01-01-2016

Funding Scheme: Postgraduate Scholarships

Funding Amount: $87,740.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurogenetics

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

clinical genetics | genetic disorders | molecular genetics | myopathy | neuromuscular diseases

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