Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing

Background: Limb-Girdle Muscular Dystrophy (LGMD) is a rare heterogeneous group of neuromuscular disorders distinguished by progressive weakness of limb-girdle muscles. Diagnosis of LGMD is a challenging task and requires multiple obligatory assays. Objective: To study the epidemiology, clinical fea...

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Bibliographic Details
Main Authors: Priyanshu Mathur, Ashmeet Kaur, Urvashi Vijay, Ashok Gupta, Kamlesh Agarwal, Lokesh Agrawal
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2025-03-01
Series:Global Medical Genetics
Subjects:
Limb-Girdle Muscular Dystrophy
Neuromuscular disorder
Muscular weakness
Mutation
LGMDR
Dysferlin
Online Access:http://www.sciencedirect.com/science/article/pii/S2699940424000353
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http://www.sciencedirect.com/science/article/pii/S2699940424000353

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