ZMPSTE24 AND LMNA GENE ANALYSIS Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare autosomal recessive disorder characterized by skeletal abnormalities such as hypoplasia of the mandible and clavicles, acro-osteolysis of terminal phalanges, delayed closure of cranial sutures, joint contractures, mottled pigmentation, cutaneous atrophy, lipodystrophy and features of metabolic syndrome such as insulin resistance, hyperlipidaemia and […]
ViewLMNA GENE ANALYSIS Limb girdle muscular dystrophy type 1B (LGMD1B), is a relatively rare inherited autosomal dominant form of LGMD often characterized by late onset, progressive proximal muscle weakness associated with cardiac complications such as atrioventricular conduction blocks (AVB), dilated cardiomyopathy, and sudden death caused by arrhythmias (Muchir et al 2000 Hum Mol Genet 9, […]
ViewLMNA GENE ANALYSIS Hutchinson-Gilford Progeria syndrome (HGPS) is a very rare disorder of premature ageing characterised by profound failure to thrive and short stature, lipodystrophy, scleroderma, progressive joint contractures, osteolysis, delayed dentition, midface hypoplasia and a receding mandible, alopecia and prominent scalp veins. Severe atherosclerosis results in cardiac or cerebrovascular disease, and the average lifespan […]
ViewLMNA, PPARG AND PLIN1 GENE ANALYSIS IN FAMILIAL PARTIAL LIPODYSTROPHY Familial Partial Lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial […]
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