Skip to main content

Advertisement

Table 2 Association of various variables with clinical phenotypes in 45 NLSDM patients

From: Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

  Phenotypes P value
Variables S
(n = 18)
S/C
(n = 21)
C
(n = 4)
AH
(n = 2)
 
Gender Male 7 6 3 2 0.076
Female 11 15 1 0  
Age onset <20y 0 2 0 2 0.003
≥20y 18 19 4 0  
Muscle Pathology RVs+ 13 8 0 0 0.001
RVs- 3 12 4 2  
Mutation type Homozygous 16 17 4 1 0.374
Heterozygous 2 4 0 1
Mutation severity Missense/in frame 2 4 1 1 0.606
Null 16 17 3 1
  1. S skeletal myopathy; C cardiomyopathy; S/C skeletal myopathy with cardiomyopathy; AH asymptomatic hyperCKemia; RVs rimmed vacuoles
  2. Differences were considered statistically significant at p < 0.05