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Table 2 Clinical, pathological and genetic data of 58 patients

From: Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre

Case/FH Sex Age at onset (m)/diagnosis(y) Weakness pattern maximum motor/(m) Gene Pathology Follow-up age (y) Motor function Pulmonary function Cardiac involvement Contractures/ Tightness of Archilles
1/− F 6/6 Generalized Walk/24 RYR1 CCD 17 Wheelchair N N −/+
2/− F Birth/1.5 Generalized Sit/18 RYR1 CCD 3 Sit N N +/+
3/AD F 12/16 Generalized- Walk/18 RYR1 CCD 18 Ambulation N N −/−
4/AD M Birth/3 Generalized Walk/36 RYR1 CCD 12 Wheelchair N N −/+
5/− M 12/6 Generalized Walk/24 TTN MmD 11 Ambulation N A −/+
6/− M 12/9 Generalized Walk/14 RYR1 MmD 13 Ambulation N N −/−
7/AR M Birth/0.4 Generalized Head control/5 RYR1 MmD 2.5 Ambulation N A −/−
8/− M Birth/12 Generalized Walk/36 RYR1 MmD 14.3 Ambulation N A −/+
9/− F 6/2.6 Axial/ Generalized Walk/24 TNNT1 NM 11 Cane A (FEV35.6%) A +/+
10/− M 2/4.1 Generalized Walk/24 NEB NM 9 Ambulation A (FEV32.1%) N −/−
11/− M 4/3 Generalized Walk/18 unknown NM 7 Ambulation N N −/+
12/− F 12/5 Generalized Walk/19 TTN CNM 13 Ambulation N N −/+
13/− M 12/12 Generalized Walk/16 RYR1 CNM 18 Ambulation N N −/+
14/− F 4/2 Generalized Aided standing
/24
TTN CNM 4 Ambulation N A −/−
15/− M 12/6 Distal Walk/17 DNM2 CNM 6.8 Ambulation N N −/+
16/− M Birth/7 Generalized Walk/13 DNM2 CNM 9.6 Ambulation N N −/−
17/− F 12/13 Generalized Walk/24 RYR1 CFTD 17.2 Ambulation N N −/−
18/− M Birth/12 Generalized Walk/13 RYR1 / 13 Ambulation N N −/−
19/− F 8/9 Axial/Generalized Walk/14 Unknown MmD/NM 10.1 Cane Intermittent ventilation N +/+
20/AR F Birth/8 Generalized Walk/16 Unknown MmD 9.1 Ambulation Intermittent ventilation A −/+
21/− M Birth/10.8 Generalized Walk/24 Unknown NM 11.3 Ambulation N N −/−
22/− F 12/13 Generalized Walk/18 Unknown NM 16 Ambulation A (FEV30.7%) A −/+
23/− F Birth/8 Generalized Walk/18 Unknown NM 9.1 Ambulation A (FEV46%) N −/−
24/AR F 12/2.3 Generalized Sit/27 Unknown NM 3.3 Sit N N −/−
25/− M 12/4 Generalized Walk/24 Unknown CNM 10 Ambulation A (FEV72.5%) N +/+
26/− M 3/5 Generalized Walk/48 Unknown CNM 8 Cane/died Continuous ventilation A +/+
27/− F Birth/1.9 Axial / Generalized Aided walking/22 Unknown CFTD 8 Wheelchair A N −/+
28/− M 4/4 Generalized Walk/24 / CFTD 5 Ambulation/died Continuous ventilation N −/−
29/− M Birth/8 Generalized Walk/20 Unknown CFTD 14 Ambulation N N +/+
30/− M 12/2.7 Generalized Walk/16 / CFTD 12.7 Ambulation N N −/−
31/− M 12/6.8 Generalized Walk/13 Unknown CFTD 7 Ambulation N A −/−
32/− M Birth/3.8 Generalized Walk/19 RYR1 CCD / / / / /
33/− F Birth/2 Generalized Walk/13 RYR1 CCD / / / / /
34/AD F 4/3 Generalized Walk/30 NEB NM / / / / /
35/− F Birth/3 Generalized Walk/18 NEB NM / / / / /
36/− M Birth/3.8 Generalized Walk/18 NEB NM / / / / /
37/− M 12/5 Generalized Walk/14 ACTA1 NM / / / / /
38/− F Birth/6 Generalized Walk/24 ACTA1 NM / / / / /
39/− M 4/2.1 Generalized Walk/22 ACTA1 NM / / / / /
40/− F 12/5 Generalized Walk/15 ACTA1 NM / / / / /
41/− M 12/8 Generalized Walk/16 Unknown CCD / / / / /
42/− M 7/3.3 Generalized Sit/18 / CCD / / / / /
43/AR F Birth/4 Generalized Walk/48 / CCD / / / / /
44/− F 8/7 Generalized Walk/60 / CCD / / / / /
45/− M 12/9 Generalized/ walk/13 / MmD / / / / /
46/− M 8/2 Generalized Walk/18 Unknown NM / / / / /
47/− M Birth/6 Generalized Walk/14 Unknown NM / / / / /
48/− F 12/5 Generalized Walk/18 / NM / / / / /
49/− M Birth/13 Generalized Walk/13 / CNM / / / / /
50/− F 12/4 Generalized Walk/18 / CNM / / / / /
51/− F Birth/2.6 Generalized Walk/18 Unknown CNM / / / / /
52/− M 12/2 Generalized Walk/16 unknown CFTD / / / / /
53/− M Birth/1.1 Generalized Roll/13 / CFTD / / / / /
54/− M Birth/0.8 Generalized Head up/10 / CFTD / / / / /
55/− M Birth/1.1 Generalized Sit/13 / CFTD / / / / /
56- F Birth/6 Generalized Walk/14 / CFTD / / / / /
  1. Note: /, no data, +, present; −, absent; FH Family history; AD Autosomal dominant; AR Autosomal recessive; M Male; F Female; N normal; A abnormal; CCD Central core disease; MmD Multiminicore disease; NM Nemaline myopathy; CNM Centronuclear myopathy; CFTD Congenital fiber type disproportion