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Showing 1 to 1 of 1 for “"Hereditary myopathy with early respiratory failure"”.
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Protein interaction studies on the titin A150 domain using proximity-dependent biotinylation
… in the human body. A single missense variant within the titin A150 domain, also called FN3 119, is sufficient to cause a dominant myopathy known as Hereditary Myopathy with Early Respiratory Failure (HMERF), with the most prevalent disease-causing variant being the c.95134T>C (p.C31712R) …