A refined diagnostic algorithm for Bethlem myopathy-Reference-Cited by-同舟云学术

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A refined diagnostic algorithm for Bethlem myopathy

Published:2008-03-31 Issue:14 Volume:70 Page:1192-1199
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Hicks D.,Lampe A. K.,Barresi R.,Charlton R.,Fiorillo C.,Bonnemann C. G.,Hudson J.,Sutton R.,Lochmuller H.,Straub V.,Bushby K.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 65 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene;Clinical Case Reports;2024-08

2. Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report;BMC Anesthesiology;2024-05-10

3. The UCMD-Causing COL6A1 ( $c . 930 + 189 C > T$ ) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains;Human Mutation;2023-09-06

4. Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy;Neuromuscular Disorders;2023-07

5. Autosomal Recessive Limb-Girdle Muscular Dystrophies;Current Clinical Neurology;2023

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