Clinical, pathological, imaging and genetic analysis of two cases of central core disease with different inheritance modes
10.3969/j.issn.1002-0152.2017.09.001
- VernacularTitle:2例不同遗传方式中央轴空病的临床、病理、影像及基因分析
- Author:
Minting LIN
1
;
Haizhu CHEN
;
Xiaodan LIN
;
Junjie HE
;
Guorong XU
;
Ning WANG
;
Zhiqiang WANG
Author Information
1. 福建医科大学附属第一医院神经内科 福州 350005
- Keywords:
Central core disease;
Ryanodine receptor 1;
Muscle MRI;
Muscle pathological;
Targeted next generation sequencing
- From:
Chinese Journal of Nervous and Mental Diseases
2017;43(9):513-519
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical, pathological, imaging features of two cases of central core disease (CCD) with different inheritance and to explore the similarities and differences between autosomal recessive CCD (AR-CCD) and autosomal dominant CCD (AD-CCD). Methods Clinical manifestations, family history, muscle MRI and muscle biopsy were collected. Targeted next generation sequencing (NGS) and sanger sequencing were applied for genetic analysis. Co-segregation analysis was further conducted in one family. Results Their common clinical manifestations included childhood early-onset proximal limbs muscle weakness and dystrophy accompanied with facial involvement. The MRI revealed extensive muscular dystrophy and fatty filtration in the both thighs, but not in rectus femoris. Pathology of skeletal muscle showed typical central cores in type Ⅰ muscle fibers and eccentric cores only in AR-CCD. Targeted NGS identified 3 missense mutations in RYR1, including one novel mutation. Conclusion The present study has described clinical and pathological features of two typical CCD patients with different inheritance, which may be associated with the different mutations in RYR1 gene. Targeted NGS apparently improves the genetic diagnosis of CCD.
