Table 1 Myopathies, transcripts, and deep intronic variants included in the NGS panel

LGMD R1

calpain3-related

Calpainopathy

CAPN3

NM_000070

24

1746-20C > G; 2264-11C > T; 2381-12A > G

LGMD R2

dysferlin-related

Dysferlinopathy

DYSF

NM_003494

55

-116delC; 2163-11G > A; 2355 + 14G > A; 3442 + 14C > T

LGMD R5

γ-sarcoglycan-related

γ-sarcoglycanopathy

SGCG

NM_000231

7

LGMD R3

α-sarcoglycan-related

α-sarcoglycanopathy

SGCA

NM_000023

9

158-11G > A

LGMD R4

β-sarcoglycan-related

β-sarcoglycanopathy

SGCB

NM_000232

6

LGMD R6

δ-sarcoglycan-related

δ-sarcoglycanopathy

SGCD

NM_000337

9

LGMD R7

telethonin-related

Telethoninopathy

TCAP

NM_003673

2

LGMD R9

FKRP-related

FKRP

NM_024301

1

LGMD R12

anoctamin5-related

ANO5

NM_213599

22

Pompe Disease (PD)

GAA

NM_000152

19

2481 + 16G > A; 2800-11C > G; -32-13 T > G

154