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M.R. Davis

Royal Perth Hospital

33

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Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement

2016 Neuromuscular Disorders
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Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein.

2016 Muscle & Nerve
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Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

2013 Neuromuscular Disorders
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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

2013 Neuromuscular Disorders
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P.9.14 Next generation sequencing provides diagnosis for multiple foetal akinesia disorders

2013 Neuromuscular Disorders
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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

2013 American Journal of Human Genetics
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G.P.92 Study of an autosomal recessive spinocerebellar ataxia with peripheral neuropathy

2012 Neuromuscular Disorders
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C.P.6 Study of a novel autosomal recessive minicore disease

2012 Neuromuscular Disorders
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D.P.6 Whole exome sequencing applied to foetal akinesia

2012 Neuromuscular Disorders
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P5.10. Myotonia congenita and CLCN1 testing in Australia: Novel mutations, racial variation and founder effects

2011 Neuromuscular Disorders
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