Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

Abstract Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients w...

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Bibliographic Details
Main Authors: Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang
Format: Article
Language:English
Published: BMC 2020-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Laing distal myopathy
MYH7
Phenotype
Genotype
Pathology
Online Access:https://doi.org/10.1186/s13023-020-01626-y

Internet

https://doi.org/10.1186/s13023-020-01626-y

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