Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review

Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review

Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and genetic mutations of 2 patients of DNAJB6 relate...

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Bibliographic Details
Main Authors: LI Fan, YU Meng, XIE Zhi⁃ying, WANG Qing⁃qing, LIU Jing, ZHANG Wei, LÜ He, YUAN Yun, WANG Zhao⁃xia
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2021-03-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
muscular diseases
muscular dystrophies
limb⁃girdle
distal myopathies
genes
mutation
pedigree
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/2297

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