Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
- Resource Type
- Article
- Authors
- Ramsey, Keri; Belnap, Newell; Bonfitto, Anna; Jepsen, Wayne; Naymik, Marcus; Sanchez‐Castillo, Meredith; Craig, David W.; Szelinger, Szabolcs; Huentelman, Matthew J.; Narayanan, Vinodh; Rangasamy, Sampath
- Source
- Molecular Genetics & Genomic Medicine. Feb2022, Vol. 10 Issue 2, p1-4. 4p.
- Subject
- *LYSOSOMES
*FAMILIAL spastic paraplegia
*ATROPHY
*GENETIC mutation
- Language
- ISSN
- 2324-9269
We would like to thank the patient's family for supporting the research and providing information on their daughter's symptoms and assisting with sample acquisition. A TECPR2 band (140 kDa) was detected in the control human skeletal muscle sample but not in the patient skeletal muscle lysate (Figure 1b) suggesting that the truncated TECPR2 proteins are degraded. [Extracted from the article]