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Emery—dreifuss muscular dystrophy: Report of five cases in a family and review of the literature
Author(s) -
Merlini Luciano,
Granata Claudia,
Dominici Paola,
Bonfiglioli Silvia
Publication year - 1986
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.880090602
Subject(s) - muscular dystrophy , medicine , incidence (geometry) , cardiomyopathy , sudden death , pediatrics , cardiology , heart failure , physics , optics
Clinical and laboratory data of five cases of Emery—Dreifuss muscular dystrophy in three generations of a family are reported. Severity of the myopathic picture varied in the five patients considerably from almost noninvolvement to severe manifestations. In contrast, cardiomyopathy was severe not only in three adults but also in a 13‐year‐old boy. A review is given of 73 cases from the 6 major families reported in the literature. Most striking is the high incidence of sudden death. A wide variability in the severity of the myopathic picture was also evident.