Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Abstract excerpt

Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear classification. Phenotypes have traditionally been characterized using the classification system proposed by Bamshad or Hall for distal arthrogryposis. Recessive MYH3 inheritance has been described in contractures, pterygia and spondylocarpotarsal fusion syndrome, and, more recently, in distal arthrogryposis...

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