Marked hemiatrophy caused by a nonsense mutation of the dystrophin gene in a female patient of Duchenne muscular dystrophy
- Author:
Zhi-Jie Zhou
1
;
Yu-Quan Shao
2
;
Fei Xie
2
;
Ping Xia
2
Author Information
- Publication Type:Journal Article
- Keywords: Duchenne muscular dystrophy; female carrier; hemiatrophy
- From:Neurology Asia 2020;25(4):593-596
- CountryMalaysia
- Language:English
- Abstract: Our objective is to report a female carrier of Duchenne muscular dystrophy (DMD) presented with remarkable asymmetric limb weakness and atrophy caused by a heterozygous point mutation in DMD gene. The patient was born in a non-consanguineous marriage. She experienced slowly progressive weakness and atrophy of her right limbs for approximately 20 years. The thigh muscle magnetic resonance imaging (MRI) showed obvious atrophy with fatty replacement on the right thigh compared with the left, and the ‘trefoil with single fruit sign’ was observed. Muscle pathology revealed decreased dystrophin protein expression in scattered fibers. The multiplex ligation-dependent probe analysis (MLPA) analysis did not detect any large rearrangements. Subsequent whole exome sequencing (WES) identified a heterozygous nonsense mutation, c.1471C>T (p. Q491* ) of dystrophin (DMD) gene in the patient. This report highlights that marked hemiatrophy can occur in a female manifesting carriers of DMD and WES should be considered in MLPA-negative patients. Muscle MRI can serve as an adjunct to diagnose dystrophinopathies.
- Full text:20250724093047842247.2020my0084.pdf
