Publications by authors named "Sanja Parlovic"
Srp Arh Celok Lek
August 2002
Article Synopsis
- Charcot-Marie-Tooth type 1A disease (CMT1A) is linked to a specific genetic mutation on chromosome 17p11.2 seen in over half of diagnosed patients, while hereditary neuropathy with liability to pressure palsies (HNPP) involves a deletion of the same segment.
- A study of 48 individuals revealed that 52% of definite CMT1 patients had the identified duplication, whereas only some sporadic CMT cases exhibited the same genetic alteration.
- The research highlights the significance of reliable DNA testing for these genetic conditions, aiding in diagnosis and genetic counseling for patients and their families.
