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A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
Muscle Nerve. 2008 Oct; 38(4):1336-9.MN

Abstract

We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family with Emery-Dreifuss muscular dystrophy and a novel mutation (Leu162Pro) in the LMNA gene. Within this single family, the age of onset and disease severity varied among the family members. In addition, focal defects of nuclear membranes with chromatin blebs in endothelial cells was shown via electron microscopy.

Authors+Show Affiliations

Department of Neurology, College of Medicine, Hanyang University, 17 Haengdang-dong, Seongdong-gu, Seoul 133-792, South Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18816602

Citation

Kim, Hyun Y., et al. "A Novel LMNA Gene Mutation Leu162Pro and the Associated Clinical Characteristics in a Family With Autosomal-dominant Emery-dreifuss Muscular Dystrophy." Muscle & Nerve, vol. 38, no. 4, 2008, pp. 1336-9.
Kim HY, Ki CS, Kang SJ, et al. A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. Muscle Nerve. 2008;38(4):1336-9.
Kim, H. Y., Ki, C. S., Kang, S. J., Khang, S. K., Koh, S. H., Kim, D. W., Kim, S. H., & Sung, I. H. (2008). A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. Muscle & Nerve, 38(4), 1336-9. https://doi.org/10.1002/mus.21066
Kim HY, et al. A Novel LMNA Gene Mutation Leu162Pro and the Associated Clinical Characteristics in a Family With Autosomal-dominant Emery-dreifuss Muscular Dystrophy. Muscle Nerve. 2008;38(4):1336-9. PubMed PMID: 18816602.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. AU - Kim,Hyun Y, AU - Ki,Chang-Seok, AU - Kang,Seok-Jae, AU - Khang,Shin K, AU - Koh,Seong-Ho, AU - Kim,Dong-Won, AU - Kim,Seung H, AU - Sung,Il-Hoon, PY - 2008/9/26/pubmed PY - 2008/12/17/medline PY - 2008/9/26/entrez SP - 1336 EP - 9 JF - Muscle & nerve JO - Muscle Nerve VL - 38 IS - 4 N2 - We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family with Emery-Dreifuss muscular dystrophy and a novel mutation (Leu162Pro) in the LMNA gene. Within this single family, the age of onset and disease severity varied among the family members. In addition, focal defects of nuclear membranes with chromatin blebs in endothelial cells was shown via electron microscopy. SN - 0148-639X UR - https://www.unboundmedicine.com/medline/citation/18816602/A_novel_LMNA_gene_mutation_Leu162Pro_and_the_associated_clinical_characteristics_in_a_family_with_autosomal_dominant_emery_dreifuss_muscular_dystrophy_ L2 - https://doi.org/10.1002/mus.21066 DB - PRIME DP - Unbound Medicine ER -