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/hyperinsulinemia−NormalDiabetes mellitus