E-Table 1. Patient Characteristics, Demographics, and Clinical Data

E-Table 1. Patient characteristics, demographics, and clinical data.

Family/LMNA Age/Sex Symptoms Findings related to 1FPLD- Findings related to FPLD-

Patient mutation associated myopathy associated neuropathy 1 39/f Lack of subcutaneous fat, Muscle hypertrophy, 3MNW both sides

I/p.R482W peripheral insulin resistance, severe myalgias, 4UNE right

hyperlipidemia 2CK 400 U/l enlarged palpable nerves

Muscle histology: myopathy, Sural nerve histology: tomacula,

fiber hypertrophy signs of de- and remyelinisation 2 I/p.R482W 36/m Lack of subcutaneous fat, Muscle hypertrophy, MNW both sides

peripheral insulin resistance, myalgias, CK 210 U/l enlarged palpable nerves

hyperlipidemia Muscle histology: myopathy,

fiber hypertrophy 3 I/p.R482W 28/m Lack of subcutaneous fat, Myalgias, CK 130 U/l UNE both sides

hyperlipidemia Sural nerve histology: tomacula,

signs of de- and remyelinisation 4 I/p.R482W 36/f Lack of subcutaneous fat, Muscle hypertrophy, None

peripheral insulin resistance, mild myalgias,

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,

hyperlipidemia enlarged palpable nerves 6 III/p.R482Q 37/f Lack of subcutaneous fat Muscle hypertrophy, None

CK 87 U/l 7 IV/p.R482W 71/f Lack of subcutaneous fat, Muscle hypertrophy, MNW both sides

peripheral insulin resistance, severe myalgias, 5TTS right

hyperlipidemia, limb-girdle weakness, numbness distal legs

died at age 72y CK 340 U/l, enlarged palpable nerves

Muscle histology: myopathy, Sural nerve histology: tomacula,

fiber hypertrophy, mild signs of de- and remyelinization,

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

peripheral insulin resistance, myalgias on exertion

hyperlipidemia 10 VI/p.R482Q 18/f Lack of subcutaneous fat, None None

peripheral insulin resistance,

hyperlipidemia 11 VII/p.R482Q 52/f Lack of subcutaneous fat, Muscle hypertrophy, MNW both sides peripheral insulin resistance, severe myalgias Meralgia paresthetica

hyperlipidemia CK 76 U/l Sural nerve histology: tomacula,

Muscle histology: myopathy, signs of de- and remyelinization

fiber hypertrophy, minimal

perivascular inflammation 12 VIII/p.R582H 62/f Lack of subcutaneous fat, Muscle hypertrophy UNE right

hyperlipidemia enlarged palpable nerves 13 VIII/p.R582H 40/f Lack of subcutaneous fat, Muscle hypertrophy None

hyperlipidemia Control p.W498C 52/f LGMD1B, no lipodystrophy Limb-girdle weakness, None

symptoms CK 710 U/l

Muscle histology: mild

muscular dystrophy, normal

fiber diameter

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