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Table 2 Clinical summary of patients

From: A nationwide survey on Marinesco-Sjögren syndrome in Japan

SIL1 mutations Positive (n = 24) Negative (n = 3) Not examined (n = 9)
Ocular involvements Cataracts 24/24 (100%), 2y-6y 3/3 (100%) 9/9 (100%)
Strabismus 10/18 (56%) 1/3 (33%) 5/7 (71%)
Motor functions Muscle weakness 21/22 (95%), 2y-52y 3/3 (100%) 9/9 (100%)
Development Head control 21/21 (100%), 4 m-18 m 5 m-8 m 4 m-7 m
Sit 20/20 (100%), 10 m-36 m 12 m-18 m 12 m-36 m
Stand with support 16/20 (80%), 1y-4y 15 m, 24 m 15 m-6y
Walk with support 16/20 (80%), 2y-22y 2/2 (100%) 15 m, 24 m 3/3 (100%) 15 m-6y
Loss of ambulation 5/16, 13y-28y   
Cerebellar signs Hypotonia 21/24 (88%) 3/3 (100%) 9/9 (100%)
Ataxia 16/24 (67%), 2y-52y 2/3 (100%) 6/8 (75%)
Nystagmus 11/24 (46%), 2y-45y 0/3 5/8 (63%)
Dysarthria 8/24 (33%), 2y-48y 2/3 (67%) 4/9 (44%)
Psychomotor delay 20/22 (91%), IQ(DQ):24-100 3/3 (100%) 9/9 (100%)
Hypogonadism 3/8 (38%) 0/1 2/3 (67%)
Skeletal abnormalities Short stature 12/18 (67%), 1/3 (33%) 3/8 (38%)
Spinal deformities 8/22 (36%) 1/3 (33%) 3/7 (43%)
Flat foot 7/22 (32%) 0/3 1/7 (14%)
Short fingers 5/22 (23%) 0/3 2/8 (25%)
Others Serum CK (IU/L) 28-2000 144-3010 95-600
Cerebellar atrophy 19/19 (100%) 3/3 (100%) 9/9(100%)
Rimmed vacuoles in muscles 16/16 (100%) 0/1 2/6 (33%)