Table 2 Clinical findings in NLSD-I patients

References

[Bruno, 2008] [13]

[Bruno 2008] [13]

[Gaeta, 2008] [14]

[Redaelli,2010-Ronchetti, 2008] [6, 18]

[Redaelli, 2010] [6]

[Angelini, 1980] [16]

Family

XII.1

XII.2

XIII.1

XIV.1

XV.1

XVI.1

Mutation

p.R184X/p.R184X. loss of α/β hydrolase domain

p.R184X/p.R184X. loss of α/β hydrolase domain

IVS4-1G > A Probably not functional protein

c.47 + 1G > A Probably no protein production

p. S33X/p.R297X. Probably no protein production/ It loses the end of α/β hydrolase domain and C-terminal domain

Sex

M

F

F

F

M

F

Onset of symptoms

Birth

Birth

Birth

Birth

Birth

5y

First symptom

C

C

C

C

C

H

Age at last clinical examination

15y

28y

69y

42y

16y

5y

Weakness

proximal

-

-

LL

-

-

UL, LL

distal

-

-

UL, LL

-

-

UL, LL

axial

-

-

-

-

-

+

Other clinical features

-

-

HL

CT

-

-

Exercise intolerance

-

-

+

-

-

-

Myalgias

-

-

-

-

-

-

Muscle cramps

-

-

+

-

-

-

Spine deformities

-

-

L

-

-

L

Cardiac involvement

-

-

HCM

-

-

-

PMK/ICD implantation

-

-

-

-

-

-

Liver involvement

+

+

-

+

+

+

Ichthyosis

+

+

+

+

+

+

Jordans’ anomaly

n.p.

n.p.

+

+

+

+

Age at muscle biopsy

6 y

n.p.

65y

n.p.

n.p.

5y

Lipidosis in muscle biopsy

+

n.p.

+

n.p.

n.p.

+

EMG

n.p.

n.p.

N, SA

n.p.

n.p.

M

Max CK value

3.5X

1.5X

2X

Normal

Normal

1.5X