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Table 1 Clinical features of patients with FKRP mutations

From: LGMD2I in a North American population

  Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Patient 6 Patient 7
Gender Male Male Female Male Female Female Male
Ethnicity - Causasian Caucasian Caucasian Caucasian Caucasian Asian
Onset 34 months 1st 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)
  1. -, not done or not assessed; FVC, forced vital capacity; extremity strength graded on Medical Research Council (MRC) scale