Table 2

Patients with EDMD cases and LMNA mutations

	Patient	Mutation	Protein change	Age	I	Distribution of clinical myopathy	Contractures	Cardiac involvement
I, inheritance; nk, not known; fam, familial; spor, sporadic; A, arrhythmia; AF, atrial fibrillation; CD, conduction defects; DCM, dilated cardiomyopathy; PM, pacemaker
1	SS	73C>G	R26G	36	nk	proximal, axial	elbow, ankle	CD
2	AAg	94–96del AAG	K32del	16	fam	proximal, axial	elbow, ankle	A, DCM
3	CM	103C>G	L35V	9	spor	generalised	elbow, knee, ankle, rigid spine	A
4	CaA	334–336 delGAG	E112del	15	nk	proximal	elbow, ankle, rigid spine	none
5	SD	743T>C	L248P	15	fam	humeroperoneal, proximal in lower limbs	elbow	none
6	MLG	746G>A	R249Q	28	spor	generalised	elbow, knee, ankle, rigid spine	A, CD, PM
7	And	746G>A	R249Q	22	nk	proximal	elbow, knee, ankle, rigid spine	CD
8	CE	800A>G	Y267C	27	spor	proximal	elbow, ankle, spine	CD
9	AP	1337A>T	D446V	7	nk	proximal	elbow, ankle, neck	none
10	Ulu	1357C>T	R453W	16	nk	none	shoulder, hip, elbow, ankle, rigid spine	none
11	Kuch	1357C>T	R453W	10	fam	none	rigid spine	none
12	Cat	1357C>T	R453W	46	nk	axial, proximal	rigid spine	CD, PM
13	NMC	1583C>G	T528R	28	nk	generalised	elbow, knee, ankle, rigid spine	A, CD, PM
14	28	1583C>G	T528R	23	spor	humeroperoneal, axial	elbow, rigid spine	AF
15	Cal	1622G>A	R541H	20	nk	humeroperoneal	rigid spine	A