Table 1.

Clinical characteristics of all patients with various clinical subtypes of LMNA-related muscular dystrophy

Patient number/sex/age at last review (year)	Presenting feature/age at onset (year)	Motor function	Contractures	CK (U/L)	Heart	EMG	Muscle biopsy
1/female/24	Limb weakness and gait disorder/10	Proximal LL weakness	Left ankle	223	Normal	Myogenic change	Myodystrophic change
2/male/19	Limb weakness and myopathic gait/1	Proximal UL and LL weakness	Both sides of elbow and ankle	929	Normal	Myogenic change	Myodystrophic change
3/female/29	Limb weakness/3	Proximal and distal LL weakness	Both sides of elbow and wrist, rigid spine	902	Atrioventricular junctional escape rhythm	Myogenic change	Myodystrophic change
4/male/4	Limb weakness/2	Proximal LL weakness	Both sides of ankle	1361	Normal	Myogenic change	Myodystrophic change
5/female/14	Limb weakness/4	Proximal and distal LL weakness	Spine, both sides of ankle	820	Tachycardia, ultrasonic cardiogram is normal	Myogenic change	Myodystrophic change
6/male/3.5	Limb weakness/2	Proximal LL weakness	No	215	Normal	Myogenic change	Necrotic myopathic change
7/male/57	Limb weakness/56	Proximal LL and UL weakness	No	900	Normal	Myogenic change	Nonspecific change
8/female/3 years	Limb weakness, myopathic gait/1.3	Proximal LL and UL weakness	No	2623	Normal	Myogenic change	Myodystrophic change
9/male/2.5 years	Myopathic gait/1	LL weakness	No	413	Normal	Myogenic change	Necrotic myopathic change
10/female/16	Limb weakness/11	Proximal and distal LL weakness	No	710	Bradycardia	Myogenic change	Myodystrophic change
11/female/3	Limb weakness/1	Proximal and distal LL weakness	No	350	Normal	Myogenic change	Myodystrophic change
12/female/3	Limb weakness/1.2	Proximal LL weakness	Both sides of ankle	1005	Normal	Myogenic change	Myodystrophic change
13/male/38	Limb weakness/5	LL and UL weakness	Both sides of ankle	800	Normal	Myogenic change	Myodystrophic change
14/male/3	Limb weakness/1.2	Proximal LL weakness	No	904	Normal	Myogenic change	Myodystrophic change
15/male/6	Limb weakness, myopathic gait, hold head poorly/2	Neck, proximal LL and UL weakness	Both sides of ankle	568	Normal	Myogenic change	Myodystrophic change with massive inflammation
16/male/2.5	Motor development delay/0.9	Neck, proximal LL and UL weakness	Both sides of ankle	1046	Normal	Myogenic change	Myodystrophic change
17/female/2.3	Motor development delay/0.4	Weakness and hypotonia	Both sides of ankle	486	Normal	Myogenic change	Myodystrophic change with inflammation
18/male/1.5	Motor development delay, hold head poorly/0.2	Weakness and hypotonia	Both sides of ankle and wrist	445	Normal	Myogenic change	Myodystrophic change with inflammation
19/female/4.5	Motor development delay, hold head poorly/1	Proximal UL and LL weakness; hold head poorly	No	673	Normal	Myogenic change	End-stage change
20/female/8	Motor development delay/0.7	Proximal UL and LL weakness; hold head poorly	Both sides of knee and ankle	372	Normal	Myogenic change	Myodystrophic change with inflammation
21/female/3	Motor development delay/0.5	Weakness and hypotonia, hold head poorly	No	898	Sinus arrhythmia	Myogenic change	Myodystrophic change with inflammation
22/male/5	Motor development delay/1	Could not stand and walk	No	444	Normal	Myogenic change	Myodystrophic change with inflammation

Patient number 13 and number 14 were a father and a son. EMG: Electromyography; CK: Creatine kinase; UL: Upper limbs; LL: Lower limbs.