EARLY-ONSET BENIGN LIMB-GIRDLE MYOPATHY WITH CONTRACTURES AND FACIAL INVOLVEMENT AFFECTING A FATHER AND DAUGHTER

Authors
MALANDRINI A SCARPINI C FABRIZI GM PARROTTA E SALVADORI C GUAZZI GC
Citation
A. Malandrini et al., EARLY-ONSET BENIGN LIMB-GIRDLE MYOPATHY WITH CONTRACTURES AND FACIAL INVOLVEMENT AFFECTING A FATHER AND DAUGHTER, Journal of the neurological sciences, 132(2), 1995, pp. 195-200
Citations number
17
Categorie Soggetti
Neurosciences
Journal title
Journal of the neurological sciences → ACNP
ISSN journal
0022510X
Volume
132
Issue
2
Year of publication
1995
Pages
195 - 200
Database
ISI
SICI code
0022-510X(1995)132:2<195:EBLMWC>2.0.ZU;2-T
Abstract
We describe a father and daughter with early-onset benign limb-girdle myopathy and contractures of elbows and hands, resembling Bethlem dise ase. Muscle biopsy showed a pattern of dystrophy with non specific mit ochondrial changes. In both patients there was unusual facial muscle w eakness. We discuss the nosological position of Bethlem myopathy and s uggest that facial involvement may be an additional feature of this di sease.