TUBA4A and tubulinopathy: In general, tubulinopathies are either predominantly autosomal dominant (AD) or de novo/sporadic conditions and are rarely autosomal recessive.41 In our cohort, we observed four families with autosomal dominant inheritance; 12 cases had sporadic occurrence of a skeletal muscle phenotype where five probands had de novo variants in TUBA4A, while in nine isolated cases, we could not clarify the mode of inheritance due to absence of additional familial DNA.