A novel homozygous mutation in TBCK is associated with myopathic changes, expanding the phenotypic spectrum of TBCK mutations.
Our findings identify a novel early truncating variant in TBCK associated with a severe presentation and add muscle disease to the variability of phenotypes associated with TBCK mutations. Inconsistent genotype/phenotype correlation could be ascribed to the multiple roles of TBCK in intracellular signaling and endolysosomal function in different tissues.
Saredi et al. (Mon,) studied this question.