Despite the low incidence rate of these recessive mutations, their medical relevance may be significant, because some heterozygous cases occur together with epigenetic allele silencing of the wild type allele resulting in a pseudo-recessive phenotype, including severe facial and proximal weakness, scoliosis, opthalmoplegia and respiratory impairment 42 , 43 .
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Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.
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