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

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 with Lain...

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Detalles Bibliográficos
Autores principales: Yu, Meng, Zhu, Ying, Lu, Yuanyuan, Lv, He, Zhang, Wei, Yuan, Yun, Wang, Zhaoxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727133/
https://www.ncbi.nlm.nih.gov/pubmed/33298082
http://dx.doi.org/10.1186/s13023-020-01626-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727133/
https://www.ncbi.nlm.nih.gov/pubmed/33298082
http://dx.doi.org/10.1186/s13023-020-01626-y

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