Limb-girdle muscular dystrophy type 2D: clinical and genetic analysis of a family

Limb-girdle muscular dystrophy type 2D: clinical and genetic analysis of a family

Objective To study the characteristics and diagnosis of limb-girdle muscular dystrophy type 2D (LGMD2D). Methods The clinical characteristics, EMG, muscle MRI and muscle pathological studies of 2 female patients in a family with LGMD2D were analyzed. Genetic analysis was used in the diagnosis of th...

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Bibliographic Details
Main Authors: Li-yu OU, Yi-ming SUN, Jing LI, Liang WANG, Huan LI, Ying ZENG, Ying-yin LIANG, Cheng ZHANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2017-08-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Muscular dystrophies, limb-girdle
Phenotype
Genes
Mutation
Pedigree
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/1647

Internet

http://www.cjcnn.org/index.php/cjcnn/article/view/1647

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