Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in ANO5. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and markedly elevated creatine kinase. Next generation s...

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Detalles Bibliográficos
Autores principales: Katz, Matthew, Garton, Fleur C., Davis, Mark, Henderson, Robert D., McCombe, Pamela A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9033199/
https://www.ncbi.nlm.nih.gov/pubmed/35463132
http://dx.doi.org/10.3389/fneur.2022.868655

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9033199/
https://www.ncbi.nlm.nih.gov/pubmed/35463132
http://dx.doi.org/10.3389/fneur.2022.868655

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