Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 1 of 1 for “"sarcomeric protein dysfunction"”.
-
Arthrogryposis. Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis
… in 44% of investigated patients. Mutations in sarcomeric muscle protein genes were found in seven families with autosomal dominant and in one child with sporadic DA. In one family with a mutation in TNNI2 there were mild myopathic findings, in one family with mutation in TPM2 no obvious …