Table 1

Clinical and biochemical data of symptomatic and asymptomatic female carriers
Carrier ID Age at examination Classification Age at onset Muscle weakness Other signs CK levels (U/l) Echocardiogram Muscle biopsy
Age at biopsy Muscle Muscle pathology
C1 5y8m Symptomatic 2y Yes: progressive, proximal, symmetric. hCK No running, no jumping, positive Gowers sign 13430 at 6y Normal 6y Quadriceps Moderate increase of endomysial fibrous tissue, moderate number of necrotic fibers, mild increase of internal nuclei, moderate number of hypercontracted fibers.
C2 34y Symptomatic na Yes hCK 1050 at 34y Normal 34y Tibialis anterior Marked fiber size variation, moderate increase of endomysial fibrous tissue, increase of internal nuclei.
C3 4y Symptomatic 4y Yes: non progressive, proximal, symmetric. Main districts: limbs, trunk. hCK Myalgia 2200 at 4y3m nd 4y Quadriceps Rare internal nuclei.
C4 25y Symptomatic 23y Yes: progressive, proximal, asymmetric. Main districts: limbs, girdles. hCK Calves hypertrophy Positive Gowers sign 3034 at 25y nd 25y Quadriceps Marked fiber size variation, marked increase of endomysial fibrous tissue, some necrotic fibers.
C5 43y Symptomatic 43y Yes: progressive, proximal, symmetric. Main districts: limb girdles and distal muscles of lower limbs. hCK 933 at 43y nd 43y Left deltoid Moderate increase of endomysial fibrous tissue, marked fiber size variation, numerous internal nuclei.
C6 27y Symptomatic 11y Yes: progressive, proximal, symmetric. Main districts: girdles hCK Anserine walking 714 at 27y nd 27y Quadriceps Marked fiber size variation, increase of endomysial fibrous tissue, several internal nuclei, some necrotic fibers.
C7 9y Symptomatic na Yes: symmetric, diffuse. hCK Calves hypertrophy 6500 at 2y nd 9y Quadriceps Moderate fiber size variation, several internal nuclei.
C8 20y Asymptomatic - No hCK Calves hypertrophy >4000 at 7y Normal 7y Quadriceps Moderate fiber size variation, hypotrophic fibers and degenerating-regenerating fibers.
C9 34y Asymptomatic - No hCK Mild calves hypertrophy 1654 at 16y Normal 9y Quadriceps Mild myopathic signs.
C10 35y Asymptomatic - No hCK (at 32y and 35y) Not reported nd 35y Quadriceps Moderate fiber size variation.
C11 47y Asymptomatic - No hCK 899 at 47y nd 47y Quadriceps Fiber size variation with hypertrophic fibers, internal nuclei.
C12 24y Asymptomatic - No hCK Calves hypertrophy 1295 at 24y Normal 24y Quadriceps Very mild fiber size variation, some internal nuclei.
C13 21y Asymptomatic - No hCK Calves hypertrophy 10800 at 21y Left ventricle at the upper limit 21y Quadriceps Moderate fiber size variation, increase of endomysial fibrous tissue, numerous internal nuclei, necrotic fibers.
C14 6y Asymptomatic - No hCK Myalgia 4439 at 6y Normal 6y Quadriceps Fiber type variation, central nuclei, absence of inflammation.
C15 13y Asymptomatic - No hCK Learning difficulties 1732 at 13y nd 13y Quadriceps Mild fiber size variation, increase in internal nuclei.
C16 17y Asymptomatic - No hCK Mild calves hypertrophy 2700 at 17y nd 3y Tibialis anterior Dystrophic pattern.
C17 5y Asymptomatic - No hCK 8207 at 2y Normal 2y Quadriceps Fiber size variation, mild increase of endomysial fibrous tissue, some groups of regenerating fibers.
C18 6y Asymptomatic - No hCK 10242 at 6y Normal 6y Quadriceps Moderate increase of endomysial fibrous tissue, fiber size variation, several internal nuclei, some degenerating fibers.

hCK: high CK; na: not available; nd: not determined.

Brioschi et al.

Brioschi et al. BMC Medical Genetics 2012 13:73   doi:10.1186/1471-2350-13-73

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