[P3-114] A Case Report: Three Female Patients with Duchenne Muscular Dystrophy in a Family
Duchenne muscular dystrophy (DMD) is a lethal disease, mainly involving in male. Here, we report a DMD family that mainly present as several female DMD patients. There were four people in the family. The proband was 5 years’ old, female, with normal development, but slightly weak when climbing and running. The Creatine kinase (CK) was among 2400U/L to 5600U/L. She had a young sister, 3 years’ old, with same features of motor development, but suffering from neuroblastoma, CK was among 1000U/L to 8800U/L. Her mother was 32 years’ old, presenting as intolerance of movement, also with elevated CK level: 600 U/L- 4500 U/L. The father was normal. Therefore, the other family members of the mother were all normal. EMG of the proband referred as myogenic changes. Muscle biopsy demonstrated that parts of the muscle fibers atrophy, mild hyperplasia of connective tissue, stain of dystrophin-N negative in most muscle fibers, the expression of dystrophin-C and dystrophin-R decreased. Genetic test showed heterozygous mutation (chrX:32867900-32867900, c.130dupC) within exon 3 in the DMD gene. Her mother and sister carried the same mutation. It was a highly pathogenic frameshift mutation which was not reported in HGMD pro database. This article reports a rare family of female patients with duchenne muscular dystrophy, and reports a new mutation of DMD gene.