Table 2 Clinical and genetic diagnoses of patients with suspected hereditary myopathy

Dystrophinopathy

9 (10)

7/7

Duchenne muscular dystrophy (DMD)

6 (7)

5/5

Becker muscular dystrophy (DMD)

3 (3)

2/2

LGMD

25 (29)

15/22

LGMD R2 dysferlin-related (DYSF)

4 (5)

4/4

LGMD R9 FKRP-related (FKRP)

3 (3)

3/3

EDMD (lamin A/C related myopathy) (LMNA)

3 (3)

2/2

LGMD R1 calpain3-related (CAPN3)

2 (2)

2/2

LGMD R3 α-sarcoglycan (SGCA)

2 (2)

2/2

LGMD R6 δ-sarcoglycan (SGCD)

1 (1)

1/1

LGMD R12 anoctamin5-related (ANO5)

1 (1)

1/1

LGMD, undetermined type

9 (10)

0/7

Facioscapulohumeral muscular dystrophy type 1

9 (10)

2/2

Myotonic dystrophy type 1 (DMPK)

9 (10)

7/8

Non-dystrophic myotonias

7 (8)

2/3

Myotonia congenita (CLCN1)

4 (5)

1/1

Paramyotonia congenita

2 (2)

0/1

Schwartz-Jampel syndrome, type 1(HSPG2)

1 (1)

1/1

Hereditary periodic paralysis

3 (3)

0/2

Hypokalemic periodic paralysis

2 (2)

0/1

Andersen Tawil syndrome

1 (1)

0/1

Collagen VI related muscular dystrophy

3 (3)

2/2

Ullrich congenital muscular dystrophy (COL6A1)

2 (2)

2/2

Bethlem myopathy

1 (1)

0/0

Congenital myopathy

1 (1)

1/1

MYO18B associated myopathy

1 (1)

1/1

Distal myopathy

1 (1)

0/0

Distal myopathy with early respiratory failure

3 (3)

1/3

MFM9 (TTN)

1 (1)

1/1

Glycogen storage myopathy

3 (3)

3/3

Glycogen storage type 3 (AGL)

2 (2)

2/2

Glycogen storage disease X (PGAM2)

1 (1)

1/1

Danon Disease (LAMP2)

1 (1)

1/1

Mitochondrial myopathy

1 (1)

1/1

MNGIE (TYMP)

1 (1)

1/1

Myopathy lacking distinct phenotype

12(14)

0/6