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[Preprint]. 2024 Oct 14:rs.3.rs-4915388. [Version 1] doi: 10.21203/rs.3.rs-4915388/v1

Table 2.

Clinical features of reported patients with DNAJB4 variants.

Family A [5] Family B [5] Family C [5] Family [4] Patient #60 [6]
Individual AII:1 BII:1 CII:1 CII:2
DNAJB4 variant Hom c.856A > T (p.K286*) Hom c.785 T > C (p.L262S) Hom c.74G > A (p.R25Q) Hom c.74G > A (p.R25Q) Het c.270T > A (p.F90L) Hom c.308del (p.G103Efs*25)
Ethnicity/Consanguinity Spanish/no Spanish/no Saudi Arabian/yes Japanese/no NA
Sex Male Female Female Male 4 males, 2 females Female
Age at last examination 33 63 11 (deceased) 6 49–75 39~
First symptoms (age) Respiratory failure (28 years) Respiratory failure (45 years) Neck stiffness, scoliosis (1 year) Neck stiffness, scoliosis (1 year) Weakness of thumb (late 20 s – 30 s) Weight loss (32 years)
Respiratory failure Yes Yes Yes Yes Yes (60 s – 70 s) Yes
Rigid spine Yes No Yes Yes No No
Neck stiffness No No Yes Yes No No
Scoliosis No No No No No No
Joint contractures No No No No Yes (Fingers) No
Dysphagia No No No No No No
Cardiac finding No HCM No No No No
CK 500–700 Normal 350–400 350–400 646–1285 Normal
EMG NA Myopathic Myopathic Myopathic Myopathic NA

NA = not available; Hom = homozygous; Het = heterozygous; HCM = hypertrophic cardiomyopathy; CK = creatine kinase; EMG = electromyography.