Premium
Three familial cases presenting with an immobile spine. Rigid spine or Emery‐Dreifuss syndrome?
Author(s) -
Spranger M.,
Spranger S.,
Ziegan J.,
Lössner J.,
Meinck H.M.
Publication year - 1996
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.1399-0004.1996.tb02632.x
Subject(s) - muscle contracture , spine (molecular biology) , medicine , weakness , anatomy , biology , bioinformatics
A father and his two sons presented with slowly progressive muscular weakness, contractures of the spine, elbows and ankles, and cardiac conduction disturbances in the father. Clinical and histological findings are discussed in relation to the hitherto reported cases of autosomal dominant variant of the Emery‐Dreifuss syndrome and the distinction from the rigid spine syndrome.