Associated Papers
Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.
Zhu B et al.
Neuromuscular Disorders : Nmd, 2026
Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
Nigro V et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2012
Identification of autosomal recessive disease loci using out-bred nuclear families.
Carr IM et al.
Human Mutation, 2012
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Logan CV et al.
Nature Genetics, 2011
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