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

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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
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-2347462024-04-24T03:04:37Z Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report Iskandar, K Sunartini Astari, FN Gumilang, RA Ilma, N Shartyanie, NP Adistyawan, G Tan, G Gunadi Lai, PS PAEDIATRICS 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 10.1186/s12887-022-03662-y BMC Pediatrics 22 1 601- 2022-11-22T03:43:49Z 2022-11-22T03:43:49Z 2022-12-01 2022-11-21T06:42:00Z Article Iskandar, K, Sunartini, Astari, FN, Gumilang, RA, Ilma, N, Shartyanie, NP, Adistyawan, G, Tan, G, Gunadi, Lai, PS (2022-12-01). Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report. BMC Pediatrics 22 (1) : 601-. ScholarBank@NUS Repository. https://doi.org/10.1186/s12887-022-03662-y 1471-2431 https://scholarbank.nus.edu.sg/handle/10635/234746 Springer Science and Business Media LLC Elements
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	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
spellingShingle	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 Iskandar, K Sunartini Astari, FN Gumilang, RA Ilma, N Shartyanie, NP Adistyawan, G Tan, G Gunadi Lai, PS Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
description	10.1186/s12887-022-03662-y
author2	PAEDIATRICS
author_facet	PAEDIATRICS Iskandar, K Sunartini Astari, FN Gumilang, RA Ilma, N Shartyanie, NP Adistyawan, G Tan, G Gunadi Lai, PS
format	Article
author	Iskandar, K Sunartini Astari, FN Gumilang, RA Ilma, N Shartyanie, NP Adistyawan, G Tan, G Gunadi Lai, PS
author_sort	Iskandar, K
title	Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
title_short	Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
title_full	Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
title_fullStr	Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
title_full_unstemmed	Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
title_sort	autosomal dominant emery-dreifuss muscular dystrophy caused by a mutation in the lamin a/c gene identified by exome sequencing: a case report
publisher	Springer Science and Business Media LLC
publishDate	2022
url	https://scholarbank.nus.edu.sg/handle/10635/234746
_version_	1800915720824946688

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

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