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Emery-Dreifuss muscular dystrophy with unusual features

Authors :
Feza Deymeer
Yilmaz Nisanci
John R. W. Yates
Coşkun Özdemir
Cihangir Kaymaz
Cicek Bayindir
Kamil Adalet
A. Emre Öge
Source :
Muscle & Nerve. 16:1359-1365
Publication Year :
1993
Publisher :
Wiley, 1993.

Abstract

Two families with Emery-Dreifuss muscular dystrophy (EMD) are described. Several unusual features for EMD are emphasized. One of the patients had severe neuromuscular disability with inability to walk during early childhood. This patient also had mild bifacial paresis. His brothers had the typical slow progression of EMD. In some of the patients, muscle weakness distribution was more widespread than has usually been reported, with prominent involvement of finger extensors. It is suggested that there is a wide phenotypic spectrum in EMD. In both families, the disease segregated with markers spanning the EMD locus in Xq28. © 1993 John Wiley & Sons, Inc.

Details

ISSN :
0148639X
Volume :
16
Database :
OpenAIRE
Journal :
Muscle & Nerve
Accession number :
edsair.doi...........5d08c206bb53aa36889bed3e98852f80
Full Text :
https://doi.org/10.1002/mus.880161214