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Emery‐Dreifuss syndrome and X‐linked muscular dystrophy with contractures: evidence for homogeneity
Author(s) -
Goldblatt J.,
Schram L. J.,
Wallis G.,
Oswald A.,
Beighton P.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb02898.x
Subject(s) - muscular dystrophy , emerin , xq28 , muscle contracture , genetic linkage , genetics , genetic heterogeneity , phenotype , medicine , gene , biology , anatomy , nuclear protein , transcription factor
We report on a family in which individuals have clinical features of both Emery‐Dreifuss syndrome (EMD) and X‐linked muscular dystrophy with contractures (XLMDC). Molecular studies on this kindred showed linkage between the disorder and probe DXS 52 (St 14) located at Xq28. The gene for conventional EMD has previously been mapped to this region and our molecular findings therefore suggest that EMD and XLMDC represent the phenotypic spectrum of the same mutated gene rather than heterogeneity, as sometimes postulated.