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1. Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.

2. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.

3. A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.

4. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.

5. Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.

6. Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.

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