Table 4 Clinical phenotypes associated with various causative genes/molecular pathogenic changes in the current cohort of hereditary myopathies

Limb-girdle weakness

DYSF

4

FKRP

3

CAPN3

2

SGCA

2

SGCD

1

ANO5

1

Limb-girdle weakness + calf hypertrophy

DMD

7

Limb-girdle weakness + contractures

LMNA

2

COL6A1

2

Limb-girdle weakness + scoliosis

MYO18B

1

Limb-girdle weakness + scapular winging

TYMP

1

Clinical myotonia + distal muscle weakness

DMPK

7

Clinical myotonia

CLCN1

1

Clinical myotonia + skeletal deformity

HSPG2

1

Early respiratory muscle weakness + distal weakness

TTN

1

Exertional myalgia and cramps

AGL

2

LAMP2

1

Recurrent rhabdomyolysis

PGAM2

1

Clinical phenotype

Molecular pathogenic change

N = 2

Facioscapulohumeral weakness

Reduction of D4Z4 repeat array units

2