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Table 1 Summary of the features of previously published cases of Ullrich congenital muscular dystrophy and the present study

From: A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

  (Present study, 2019) Sri Lanka (Nadeau et al., 2009) United Kingdom [9] (Bozorgmehr et al., 2013) Iran [10] (Martoni et al., 2013) Italy [11] (Park et al., 2014) Korea [12] (Brinas et al., 2010) France [13] (Pace et al., 2008) Australia [14] (Nalini et al., 2009) India [15]
Gender Male:Female
0:2
not recorded Male: Female
5:1
Male:Female
2:0
Male:Female
0:1
Male: Female
24:25
Male: Female
6:2
Male: Female
8:1
Parental consanguinity + (2/2) + (3/13) + (6/6) not recorded + (7/49) not recorded + (7/9)
Clinical history / symptoms
 Prenatal reduction of fetal movements not recorded + (2/6) not recorded not recorded not recorded not recorded
 Congenital contractures not recorded + (3/6) not recorded + + (2/49) + (3/8) + (8/9)
 Difficulty in walking independently + (2/2) + (4/13) + (6/6) + + + (46/49) + (8/8) + (9/9)
 Delayed motor milestones + (2/2) + (11/13) + (6/6) + + + (49/49) + (8/8) + (9/9)
 Progressive increase in muscle weakness + (2/2) + (13/13) + (6/6) + + + (26/49) + (8/8) + (9/9)
Clinical examination
 Abnormal facies not recorded not recorded not recorded not recorded not recorded not recorded + (7/9)
 Joint contractures + (11/13) + (2/6) + + + (49/49) + (7/8) + (9/9)
 Bilateral proximal muscle weakness + (2/2) + (13/13) + (6/6) + + + (49/49) + (8/8) + (9/9)
 Gait abnormality/ inability to walk independently + (2/2) + (4/13) + (6/6) + + + (46/49) + (8/8) + (9/9)
 Spinal rigidity/scoliosis + (12/13) + (6/6) + + (43/49) + (5/6) + (7/9)
 Hyperlaxity of distal joints + (2/2) not recorded + (1/6) + + + (49/49) + (8/8) + (9/9)
 Absent/indistinguishable palmar creases/soft velvet palms + (2/2) not recorded not recorded not recorded + not recorded not recorded + (9/9)
 Atrophy of limbs with or without fasciculation + (2/2) not recorded not recorded not recorded + not recorded not recorded + distal muscles mainly
 Keloid formation + (3/13) not recorded not recorded + not recorded + (2/8) not recorded
 Normal intelligence + (2/2) + (13/13) + (6/6) not recorded + not recorded not recorded + (9/9)
 Respiratory function abnormality + (13/13) + (1/6) + + (35/49) + (3/8) + (2/9)
 Follicular hyperkeratosis + (8/13) + (1/6) not recorded not recorded + (22/49) + (7/8) not recorded
Investigation findings
 EMG - short polyphasic motor unit action potentials + (1/2) not recorded + (6/6) not recorded Both short and long polyphasic action potentials not recorded not recorded not recorded
 Muscle biopsy - infiltration of adipose tissue, atrophic muscle fibers, angulated fibers not recorded not recorded not recorded not recorded + + (49/49) + (7/8) abnormal (9/9)
 Normal or mildly elevated CPK levels (normal 0–200 U/L) Normal (1/2) mild elevation (1/2) Ranged from normal to three times upper limit Mild elevation (1/6) Normal Normal Normal to four times upper limit Normal (1/8)
Mild to three times upper limit (7/8)
Normal (7/9) Mild elevation (2/9)
Genetic variants involving COL6A1 gene Homozygous missense variant (c.1667G > T|p.Gly556Val) Heterozygous missense variants (c.841G > A, c.850G > A) in exon 9 and (c.868G > A) in exon 10 homozygous missense variant in exon 19 Heterozygous missense variant (intron 32c.2250 + 1 and exon 33 c.2331 Ins/Dup GCCT) Heterozygous missense variant (c.904G > A| p.Gly302Arg);
homozygous silent variant (c.1095 T > C| p.Gly365=);
homozygous intronic variant (c.588 + 19dupC)
Homozygous and heterozygous COL6A1 exon 10 mutations (majority were missense variants) Missense variant (G > T or G > A) Possible heterozygous variant in COL6 gene
  1. +, present; −, absent; CPK Creatine kinase, EMG Electromyography