Severe clinical expression in X-linked Emery–Dreifuss muscular dystrophy

X-linked Emery–Dreifuss muscular dystrophy (EDMD) is a relatively rare benign neuromuscular disorder which can vary remarkably in onset, course and severity. In the present study, a TCTAC deletion spanning the nucleotides 631–635 of the emerin gene caused an unusually severe disease phenotype includ...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 1999-05, Vol.9 (3), p.166-170
Main Authors: Hoeltzenbein, Maria, Karow, Thomas, Zeller, Joern A, Warzok, Rolf, Wulff, Karin, Zschiesche, Marlies, Herrmann, Falko H, Große-Heitmeyer, Wolfgang, Wehnert, Manfred S
Format: Article
Language:English
Subjects:
Adolescent
Adult
Base Sequence
Child
Child, Preschool
Clinical expression
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Family Health
Female
Gene Expression
Genetic Linkage
Humans
Infant
Male
Membrane Proteins - genetics
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
Muscular Dystrophy, Emery-Dreifuss
Nuclear Proteins
Pedigree
Phenotype
Sequence Deletion
Thymopoietins - genetics
X Chromosome - genetics
X-linked Emery–Dreifuss muscular dystrophy
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Summary:X-linked Emery–Dreifuss muscular dystrophy (EDMD) is a relatively rare benign neuromuscular disorder which can vary remarkably in onset, course and severity. In the present study, a TCTAC deletion spanning the nucleotides 631–635 of the emerin gene caused an unusually severe disease phenotype including loss of ambulation and severe muscle wasting in two affected brothers. The same mutation has been reported previously in an unrelated family showing a significantly milder phenotype. The interfamilial heterogeneity in distribution and in severity of the features in the two families point to environmental or genetic modification as the cause of clinical variability in Emery–Dreifuss muscular dystrophy.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(98)00120-5