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Emery‐Dreifuss muscular dystrophy with unusual features
Author(s) -
Deymeer Feza,
Öge A. Emre,
Bayindir Çiçek,
Kaymaz Cihangir,
Nişanci Yilmaz,
Adalet Kamil,
Yates John R. W.,
Ózdemir Coşkun
Publication year - 1993
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880161214
Subject(s) - muscular dystrophy , medicine , physical medicine and rehabilitation
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.