Novel human pathological mutations

摘要

Comments: We have confirmed the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report here, a new mutation in the CLCN1 gene. The clinical diagnosis was established using ocular, cardiac, neurological and electrophysiological tests and the molecular diagnosis was done by PCR, SSCP and sequencing of the CLCN1 gene. The clinical spectrum for this family is in agreement with a clinical diagnosis of Beckers disease. This was confirmed by molecular diagnosis where a new disease-causing mutation (Q412P) was found in the family and absent in 200 unaffected chromosomes. Adequate clinical diagnosis of a neuromuscular disorder allows focusing on the molecular studies toward the confirmation of the initial diagnosis, leading to a proper clinical management and improvement of the quality of life of the patients and relatives.