Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

Table 1

Clinical characteristics and findings on magnetic resonance imaging of muscle in patients with limb girdle muscular dystrophy type 2I.

Patient	Age, years /sex	FKRP mutation	Age at onset, years	Disease duration, years	Muscle strength (%)					Ambulatory status^#	Disease severity	Cumulative score		Con
					Neck flexors	UL Proximal	UL Distal	LL Proximal	LL Distal			Fatty infiltration	Muscle edema
1	3/M	c.545A>G; c.204_206delCTC	1.5	1.5	100	100	100	100	100	0	0	0	0	-
2	4/M	c.545A>G; c.1263C>A	2	2	100	100	100	96	100	0	0	25	2	-
3	14/M	c.545A>G; hom.	8	6	100	100	100	92	100	0	0	29	13	-
4	13/M	c.545A>G; c.1067T>C	3	10	100	90	100	88	100	0	1	34	2	+
5	34/M	c.545A>G; hom.	14	20	100	90	100	88	100	0	1	39	1	+
6	36/F	c.545A>G; hom.	29	7	100	100	80	88	100	0	1	33	5	+
7	16/F	c.545A>G; c.1027G>T	11	5	80	100	100	84	100	0	1	33	2	+
8	24/F	c.545A>G; hom.	12	12	40	80	100	72	100	0	2	40	0	+
9	16/F	c.545A>G; c.534G>T	2	14	80	80	60	44	60	2	2	40	20	+
10	37/F	c.545A>G; c.160C>T	17	20	80	60	80	44	100	2	2	47	0	+

, muscle strength was converted using the Medical Research Council formula [16]; #, ambulatory status was scored as follows [17]: walking without aid (0), walking with an aid (1) (e.g., stick, crutch, or frame), need for a wheelchair at walking distances >200 m (2), and wheelchair dependence (3). Disease severity: mild (0), moderate (1), and severe (2); -, the patient did not present with a concentric fatty infiltration pattern; +, the patient presented with a concentric fatty infiltration pattern. Abbreviations: Con, concentric fatty infiltration pattern; F, female; hom., homozygous; LL, lower limbs; M, male; UL, upper limbs