Table 1 Characteristics of the cases/families

CharacteristicLamin A/C gene abnormality
R527P (exon 9) missenseR527P (exon 9) missenseR60G (exon 1) missense
(±) = not present; (+) = present; AF = atrial fibrillation.
AncestryDutchItalianFrench
Presenting featureWeaknessAbnormal gaitCongestive heart failure
Age at onset of lipodystrophy16 ySecond/third decadeAdolescence
Lipodystrophy distribution“Buffalo hump,” increased visceral fat, lipoatrophy of limbsLipoatrophy of trunk and proximal limbsIncreased fat in face and neck, lipoatrophy in limbs
Age at onset of muscle weakness13Childhood
Distribution of muscle weaknessLimb girdleHumeroperoneal/limb girdle
Rigid spine++
Contractures++
Cardiomyopathy+
Cardiac conduction abnormalities+ (AF)+ (AF)+
Triglyceride (TG)/cholesterolSlightly increased TGNormalIncreased TG
Diabetes/hyperinsulinemiaNormalDiabetes mellitus