Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

10.1186/s12887-022-03662-y

Saved in:
Bibliographic Details
Main Authors: Iskandar, K, Sunartini, Astari, FN, Gumilang, RA, Ilma, N, Shartyanie, NP, Adistyawan, G, Tan, G, Gunadi, Lai, PS
Other Authors: PAEDIATRICS
Format: Article
Published: Springer Science and Business Media LLC 2022
Subjects:
Case report
Emery-Dreifuss muscular dystrophy
Exome sequencing
LMNA
Laminopathies
Autosomal Emery-Dreifuss Muscular Dystrophy
Exome
Humans
Infant
Lamin Type A
Male
Muscle, Skeletal
Muscular Dystrophies
Muscular Dystrophy, Emery-Dreifuss
Mutation
Online Access:https://scholarbank.nus.edu.sg/handle/10635/234746
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: National University of Singapore

Internet

https://scholarbank.nus.edu.sg/handle/10635/234746

Similar Items