Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter.
We describe a father and daughter with early-onset benign limb-girdle myopathy and contractures of elbows and hands, resembling Bethlem disease. Muscle biopsy showed a pattern of dystrophy with non specific mitochondrial changes. In both patients there was unusual facial muscle weakness. We discuss the nosologic position of Bethlem myopathy and suggest that facial involvement may be an additional feature of this disease.
Institute of Neurological Sciences, University of Siena, Italy.
A
A
Malandrini
C
C
Scarpini
G M
GM
Fabrizi
E
E
Parrotta
C
C
Salvadori
G C
GC
Guazzi
D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D000368:Aged; D015139:Blotting, Southern; D004550:Elbow / Q000473:pathology / Q000503:physiopathology; D005121:Extremities / Q000473:pathology / Q000503:physiopathology*; D005152:Facial Muscles / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006225:Hand / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000502:physiology; D009119:Muscle Contraction / Q000502:physiology; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D009460:Neurologic Examination; D016133:Polymerase Chain Reaction
D000251:Adenosine Triphosphatases