Clinical,pathological and molecular biological study of six patients with collagen type Ⅵ related myopathies
10.3760/cma.j.issn.1006-7876.2018.06.004
- VernacularTitle:胶原Ⅵ蛋白相关肌病六例临床、病理、分子生物学研究
- Author:
Nan LI
1
;
Zhe ZHAO
;
Hongrui SHEN
;
Qi BING
;
Xuan GUO
;
Jing HU
Author Information
1. 河北医科大学第三医院神经肌病科
- Keywords:
Muscular diseases;
Biopsy;
Immunofluorescence staining;
Next generation sequencing
- From:
Chinese Journal of Neurology
2018;51(6):419-424
- CountryChina
- Language:Chinese
-
Abstract:
Objective Clinical, pathological and molecular biological data of six cases with molecular diagnosis of collagen type Ⅵ related myopathies were retrospectively analyzed to improve the recognition of collagen protein Ⅵrelated myopathy.Methods Clinical and pathological data of six patients diagnosed as collagen protein Ⅵ related myopathy by next generation sequencing and molecular biologic analysis during 2010-2017 were summarized.Results All of the six patients presented early childhood onset ((2.00 ±0.75) years old), and delayed motor growth after birth.There were six cases of proximal muscle weakness , one with distal muscle weakness; three cases with osteoarthropathy; one case of severe skin scar.The creatine kinase levels (187-380 U/L) of three patients were slightly elevated .Three cases showed myogenic damage , two with mild neurogenic lesions , one with myogenic and neurogenic damages . Next generation sequencing showed four cases with COL 6A1 gene heterozygous mutation ( a novel mutation and three had been reported), one with COL6A2 heterozygous mutation and one with COL6A1 and COL6A2 complex heterozygous mutation .The pathological analysis of skeletal muscle biopsy showed that the muscle fiber size was different , and the connective tissue elements were seriously increased .Some opaque fibers were observed.Six cases were found anti-collagen Ⅵ/Ⅳ protein monoclonal antibody immunofluorescence double stained , and sarcolemma Ⅵcollagen protein expression decreased to different degrees .Conclusions The clinical manifestations of the collagen protein Ⅵ related myopathy were found to be complex .Skeletal muscle biopsy pathological analysis was lack of specificity . Anti-collagen Ⅵ/Ⅳ monoclonal antibody immunofluorescence double staining showed collagen protein Ⅵ missing partly or completely . Immunofluorescence staining and the next generation sequencing can improve the diagnosis of collagen proteinⅥrelated myopathy.
