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. |