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.