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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
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