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Table 3 Putative causal variations in patients with undetermined neuromuscular diseases

From: Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Patient

Age (years)

Age of onset (years)

Clinical presentation

Gene

Variation 1 (interpretation)

Variation 2 (interpretation)

Disorder inheritance

P11

10

6

Proximal and distal limb muscle weakness

COL6A1

c.1059 + 1 G > Aa(Pathogenic)

-

Bethlem myopathy (AD)

P13

11

0.3

Motor delay

DNAJB6

c.525C > G p.Phe175Leu (VUS)

-

LGMD1E (AD)

P17

21

11

Proximal and distal limb muscle weakness

FKTN

c.607C > T p.Arg203Ter (Likely path.)

c.1238G > T p.Cys413Phe (VUS)

LGMD2M (AR)

P20

35

25

Limb-girdle muscle weakness

ANO5

c.1295C > G p.Ala432Gly (Pathogenic)

c.989dupT p.Leu 330Phefs (Pathogenic)

LGMD2L (AR)

P21

56

N/A

Limb-girdle muscle weakness

COL6A3

c.5658G > A p.Arg1886Cys (VUS)

-

Bethlem myopathy (AD)

P22

46

<26

Limb-girdle muscle weakness

DYSF

c.2448 + 2 T > G (Likely path.)

c.3351_3352delAG p.Thr1117Thrfs (Likely path.)

LGMD2B (AR)

P25

48

N/A

Proximal and distal limb muscle weakness

NEB

c.24339_24342del p.Leu8113Leufs (Likely path.)

c.24113C > A p.Ser8038Ter (Likely path.)

Nemaline myopathy (AR)

P27

60

57

Limb-girdle muscle weakness

VCP

c.1158T > C p.Lys386Glu (VUS)

-

Inclusion body myopathy (AD)

P28

43

<10

Limb-girdle muscle weakness (female)

DMD

c.7683G > A (p.Trp2561Ter) (Pathogenic)

-

Duchenne muscular dystrophy (XL)

P29

48

<36

Limb-girdle muscle weakness

GAA

c.-32-13T > G (Pathogenic)

Exon 18 deletion (Pathogenic)

Pompe disease (AR)

P30

1

0

Motor delay and generalized hypotonia

POMT2

c.1997A > Gb p.Tyr666Cys (Pathogenic)

c.1997A > Gb p.Tyr666Cys (Pathogenic)

Muscular dystrophy-dystroglycanopathy (AR)

  1. ade novo variation; bParental heterozygous carrier status confirmed; N/A Not available, VUS variant of uncertain significance. Variations were classified accordingly to the ACMG recommendations