Table 1 Clinical features of patients with FKRP mutations

Gender

Male

Male

Female

Male

Female

Female

Male

Ethnicity

-

Causasian

Caucasian

Caucasian

Caucasian

Caucasian

Asian

Onset

34 months

1^st grade

18–19 years

Childhood

23 years

Childhood

25 years

Chief complaint

Difficulty rising

Difficulty running

Exertional myalgias

Difficulty running

Difficulty with stairs

Difficulty running

Difficulty with stairs

Calf pseudohypertrophy

Present

-

None

Present

None

Present

Medial calf atrophy

Heel cords

Contracted

-

Normal

Unknown

Contracted

Normal

-

Facial strength

Normal

Mild weakness

Normal

Normal

Normal

Normal

Normal

Scapular winging

-

-

-

-

Subtle

Subtle

Subtle

Proximal upper extremity strength

-

4+

4-

5

4-

4

4+

Distal upper extremity strength

-

5

5

5

4+ to 5

4+

5

Proximal lower extremity strength

Weak

2+ to 3+

3- to 4-

2 to 3

2

3- to 3

3- to 4-

Distal lower extremity strength

-

5

5

5

4

4

5- to 5

Reflexes

2+

Trace

2+

1+ to 2+

1+ to 2+

2+

2+

FVC (% predicted)

-

-

-

-

2.72L (83%)

2.87L (75%)

3.03L (56%)

Echocardiogram (ejection fraction)

Normal

-

Normal (55%)

Angiogram normal

Normal (>55%)

~45%

(>55%)

Creatine kinase (U/L)

5,438

5,000+

1,945

3–4 times normal

1,136

5,031

6,560 to 10,642

Dystrophin duplication/deletion

None

-

None

None

-

-

-

Age at biopsy

3 1/2 years

17 years

30 years

51 years

27 years

25 years

-

Muscle sampled

Left quadriceps

Left biceps

Deltoid

Left quadriceps

Biceps

Deltoid

-

Dystrophin staining

Normal

Normal

Normal

Normal

Normal

Normal

-

Merosin staining

Normal

-

-

-

-

Decreased

-

Sarcoglycans (α,β,γ,δ)

Normal

Normal

Normal

-

Normal

Normal

-

β-dystroglycan

Normal

-

Normal

-

Normal

Normal

-

Spectrin

-

Normal

Normal

-

Normal

Normal

-

FKRP mutation

c.826C>A, p.L276I (homozygous)

c.826C>A, p.L276I (homozygous)

c.826C>A, p.L276I (homozygous)

c.826C>A, p.L276I (homozygous)

c.826C>A, p.L276I (homozygous)

c.826C>A, p.L276I (homozygous)

del 1006–1174 (169 basepair frameshift, heterozygous), c.328C>T, p.R110W (heterozygous)