Table Clinical summary of the patients

CharacteristicsPatient
12345*678
* The patient who had a compound heterozygous mutation in COL6A2 gene.
NA = detailed information not available; NW = never walked; NE = not examined; N = normal; CK = creatine kinase.
SexMFFMMFMM
Age at muscle biopsy11 y2 y 3 m2 y3 y 3 m3 y1 y4 y10 y
Consanguinity
Condition at birth
    Hypotonia+++NA+++
    Contracture of proximal joints+++NA+++
Development
    Head control, m65434346
    Sitting alone2 y1 y1 y 6 mNA9–10 m1 yNA3 y
    AmbulationNW2 y 2 mNW1 y 4 m1 y 6 mNW1 y 10 m2 y 10 m
Present status
    Contracture of proximal joints++++++++
    Loose distal joints++++++++
    Absent tendon jerks+++++++
    High-arched palate+++NA++
    Mental retardation
    Scoliosis++++++NA+++++
    Torticollis++++
    Protrusion of calcaneus bone++++NANANA+
EMGMyogenicMyogenicNEMyogenicNENENN
CK (IU/L)NA164–342290242113232270–400129