<p>E-Table 1. Patient characteristics, demographics, and clinical data.</p><p>Family/LMNA Age/Sex Symptoms Findings related to 1FPLD- Findings related to FPLD-</p><p>Patient mutation associated myopathy associated neuropathy 1 39/f Lack of subcutaneous fat, Muscle hypertrophy, 3MNW both sides</p><p>I/p.R482W peripheral insulin resistance, severe myalgias, 4UNE right</p><p> hyperlipidemia 2CK 400 U/l enlarged palpable nerves</p><p>Muscle histology: myopathy, Sural nerve histology: tomacula, </p><p> fiber hypertrophy signs of de- and remyelinisation 2 I/p.R482W 36/m Lack of subcutaneous fat, Muscle hypertrophy, MNW both sides</p><p> peripheral insulin resistance, myalgias, CK 210 U/l enlarged palpable nerves</p><p> hyperlipidemia Muscle histology: myopathy,</p><p> fiber hypertrophy 3 I/p.R482W 28/m Lack of subcutaneous fat, Myalgias, CK 130 U/l UNE both sides</p><p> hyperlipidemia Sural nerve histology: tomacula, </p><p> signs of de- and remyelinisation 4 I/p.R482W 36/f Lack of subcutaneous fat, Muscle hypertrophy, None</p><p> peripheral insulin resistance, mild myalgias,</p><p> hyperlipidemia 5 II/p.R482Q 49/f Lack of subcutaneous fat, Muscle hypertrophy, MNW right, peripheral insulin resistance, myalgias, CK 185 U/l UNE right,</p><p> hyperlipidemia enlarged palpable nerves 6 III/p.R482Q 37/f Lack of subcutaneous fat Muscle hypertrophy, None</p><p>CK 87 U/l 7 IV/p.R482W 71/f Lack of subcutaneous fat, Muscle hypertrophy, MNW both sides</p><p> peripheral insulin resistance, severe myalgias, 5TTS right</p><p> hyperlipidemia, limb-girdle weakness, numbness distal legs</p><p> died at age 72y CK 340 U/l, enlarged palpable nerves</p><p>Muscle histology: myopathy, Sural nerve histology: tomacula, </p><p> fiber hypertrophy, mild signs of de- and remyelinization, </p><p> neurogenic atrophy axonal damage 8 V/p.R482Q 34/f Lack of subcutaneous fat Muscle hypertrophy None 9 VI/p.R482Q 43/f Lack of subcutaneous fat, Muscle hypertrophy, Enlarged palpable nerves</p><p> peripheral insulin resistance, myalgias on exertion</p><p> hyperlipidemia 10 VI/p.R482Q 18/f Lack of subcutaneous fat, None None</p><p> peripheral insulin resistance, </p><p> hyperlipidemia 11 VII/p.R482Q 52/f Lack of subcutaneous fat, Muscle hypertrophy, MNW both sides peripheral insulin resistance, severe myalgias Meralgia paresthetica</p><p> hyperlipidemia CK 76 U/l Sural nerve histology: tomacula, </p><p>Muscle histology: myopathy, signs of de- and remyelinization</p><p> fiber hypertrophy, minimal </p><p> perivascular inflammation 12 VIII/p.R582H 62/f Lack of subcutaneous fat, Muscle hypertrophy UNE right</p><p> hyperlipidemia enlarged palpable nerves 13 VIII/p.R582H 40/f Lack of subcutaneous fat, Muscle hypertrophy None</p><p> hyperlipidemia Control p.W498C 52/f LGMD1B, no lipodystrophy Limb-girdle weakness, None</p><p> symptoms CK 710 U/l</p><p>Muscle histology: mild </p><p> muscular dystrophy, normal </p><p> fiber diameter</p><p>Legend: 1FPLD, familial partial lipodystrophy; 2CK normal values: female – 145 U/l, male – 175 U/l; 3MNW, median neuropathy at the wrist; 4UNE, ulnar neuropathy at the elbow; 5TTS, tarsal tunnel syndrome</p>