Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
Background: Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies. Mutation of the lamin A/C (LMNA) gene, which causes EDMD, also causes many other diseases. There is...
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Main Authors: | , , , , , , , , , |
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Format: | Article PeerReviewed |
Language: | English |
Published: |
Springer
2022
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Subjects: | |
Online Access: | https://repository.ugm.ac.id/278707/1/Iskandar_KKMK.pdf https://repository.ugm.ac.id/278707/ https://bmcpediatr.biomedcentral.com/about https://doi.org/10.1186/s12887-022-03662-y |
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Institution: | Universitas Gadjah Mada |
Language: | English |