PMC2808607_01
Photographs of each patient. (A) XR EDMD patient (case 1) showing flexion contractures of both elbows and Achilles tendons. (B) AD EDMD2 patient (case 2) showing marked muscular atrophy of upper and lower extremities with flexion contractures of both elbows and Achilles tendons. The patient keeps her heel off the floor with equinus deformities of the feet. (C) LGMD1B patient (case 3) shows peroneal dystrophy with Achilles tendon contractures. Equinus deformity of the right foot is more severe than the left one.
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F1
The contractures were more severe on the right side (Fig. 1C).
Pedigrees of the families with XR EDMD (A), AD EDMD2 (B) and LGMD1B (C). Squares indicate male family members, circles female family members and symbols with a slash mark deceased family members. Open symbols indicate unaffected family members, filled symbols indicate the presence of neuromuscular and cardiac symptoms, and shaded symbols indicate family members who are or were probably affected. Arrows represent proband. B and C from reference 8.
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F2
Another sister had a clinical picture similar to that of the patient (Fig. 2C).
12-lead ECG of EDMD (A), AD EDMD2 (B) and LGMD1B (C). (A) The ECG shows sinus arrest with junctional escape rhythm at a heart rate of 40 beats per minute. (B) The ECG shows left axis deviation, left anterior hemiblock, first-degree atrioventricular block, and sinus pause. (C) The ECG shows atrial fibrillation with ST-T changes.
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F3
Findings of ambulatory ECG monitorings of EDMD (A), AD EDMD2 (B) and LGMD1B (C). (A) Atrial fibrillation with complete AV block and junctional escape rhythm. (B) Slow nonsustained atrial tachycardia at a rate of 120 beats per minute with high grade AV block. (C) Atrial tachycardia and high grade (3:1, 4:1) AV block with the longest R-R interval of 2.06 sec.
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F4
AV block was noted by ambulatory ECG monitoring (Fig. 4B). A VVI type permanent pacemaker was implanted due to risk of sudden death associated with high degree AV block.
Findings of electrophysiologic study in a patient with XR EDMD (case 1). Electrophysiologic study shows no electrical signal in the right upper atrium. Junctional escape beats are noted.
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F5
In an electrophysiologic study, no electrical signal was noted in the upper right atrium (Fig. 5).
PMC2808607_02
Photographs of each patient. (A) XR EDMD patient (case 1) showing flexion contractures of both elbows and Achilles tendons. (B) AD EDMD2 patient (case 2) showing marked muscular atrophy of upper and lower extremities with flexion contractures of both elbows and Achilles tendons. The patient keeps her heel off the floor with equinus deformities of the feet. (C) LGMD1B patient (case 3) shows peroneal dystrophy with Achilles tendon contractures. Equinus deformity of the right foot is more severe than the left one.
jkms-20-283-g001.jpg
PMC2808607_03_jkms-20-283-g001.jpg
F1
The contractures were more severe on the right side (Fig. 1C).
Pedigrees of the families with XR EDMD (A), AD EDMD2 (B) and LGMD1B (C). Squares indicate male family members, circles female family members and symbols with a slash mark deceased family members. Open symbols indicate unaffected family members, filled symbols indicate the presence of neuromuscular and cardiac symptoms, and shaded symbols indicate family members who are or were probably affected. Arrows represent proband. B and C from reference 8.
jkms-20-283-g002.jpg
PMC2808607_03_jkms-20-283-g002.jpg
F2
Another sister had a clinical picture similar to that of the patient (Fig. 2C).
12-lead ECG of EDMD (A), AD EDMD2 (B) and LGMD1B (C). (A) The ECG shows sinus arrest with junctional escape rhythm at a heart rate of 40 beats per minute. (B) The ECG shows left axis deviation, left anterior hemiblock, first-degree atrioventricular block, and sinus pause. (C) The ECG shows atrial fibrillation with ST-T changes.
jkms-20-283-g003.jpg
PMC2808607_03_jkms-20-283-g003.jpg
F3
Findings of ambulatory ECG monitorings of EDMD (A), AD EDMD2 (B) and LGMD1B (C). (A) Atrial fibrillation with complete AV block and junctional escape rhythm. (B) Slow nonsustained atrial tachycardia at a rate of 120 beats per minute with high grade AV block. (C) Atrial tachycardia and high grade (3:1, 4:1) AV block with the longest R-R interval of 2.06 sec.
jkms-20-283-g004.jpg
PMC2808607_02_jkms-20-283-g004.jpg
F4
AV block was noted by ambulatory ECG monitoring (Fig. 4B). A VVI type permanent pacemaker was implanted due to risk of sudden death associated with high degree AV block.
The histopathologic findings of skeletal muscle biopsy specimen in AD EDMD2 (A) and LGMD1B (B-D) patient. (A) Myofibers are reduced in number and replaced by fibroadipose tissues. There are atrophic or hypertrophic myofibers, internalization of sarcolemmal nuclei and fiber splitting (hematoxylin and eosin stain, x200). (B) Variation in myofiber size, frequent internal nuclei and fatty ingrowth are noted in hematoxylin and eosin stain (x200). (C) ATPase pH 4.6 stain reveals atrophy of type 1 fibers (dark brown stain, x200). (D) ATPase pH 9.4 stain reveals a predominance of type 2 fibers (brown stain, x100).
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F6
A muscle biopsy from the quadriceps muscle showed an increase in the number of internal nuclei, mild variation in the muscle fiber diameter, scattered small-angulated myofibers and fatty ingrowth (Fig. 6B). There was marked atrophy of type 1 fibers with a predominance of type 2 fibers (Fig. 6C, D).
PMC2808607_03
Photographs of each patient. (A) XR EDMD patient (case 1) showing flexion contractures of both elbows and Achilles tendons. (B) AD EDMD2 patient (case 2) showing marked muscular atrophy of upper and lower extremities with flexion contractures of both elbows and Achilles tendons. The patient keeps her heel off the floor with equinus deformities of the feet. (C) LGMD1B patient (case 3) shows peroneal dystrophy with Achilles tendon contractures. Equinus deformity of the right foot is more severe than the left one.
jkms-20-283-g001.jpg
PMC2808607_03_jkms-20-283-g001.jpg
F1
The contractures were more severe on the right side (Fig. 1C).
Pedigrees of the families with XR EDMD (A), AD EDMD2 (B) and LGMD1B (C). Squares indicate male family members, circles female family members and symbols with a slash mark deceased family members. Open symbols indicate unaffected family members, filled symbols indicate the presence of neuromuscular and cardiac symptoms, and shaded symbols indicate family members who are or were probably affected. Arrows represent proband. B and C from reference 8.
jkms-20-283-g002.jpg
PMC2808607_03_jkms-20-283-g002.jpg
F2
Another sister had a clinical picture similar to that of the patient (Fig. 2C).
12-lead ECG of EDMD (A), AD EDMD2 (B) and LGMD1B (C). (A) The ECG shows sinus arrest with junctional escape rhythm at a heart rate of 40 beats per minute. (B) The ECG shows left axis deviation, left anterior hemiblock, first-degree atrioventricular block, and sinus pause. (C) The ECG shows atrial fibrillation with ST-T changes.
jkms-20-283-g003.jpg
PMC2808607_03_jkms-20-283-g003.jpg
F3
The histopathologic findings of skeletal muscle biopsy specimen in AD EDMD2 (A) and LGMD1B (B-D) patient. (A) Myofibers are reduced in number and replaced by fibroadipose tissues. There are atrophic or hypertrophic myofibers, internalization of sarcolemmal nuclei and fiber splitting (hematoxylin and eosin stain, x200). (B) Variation in myofiber size, frequent internal nuclei and fatty ingrowth are noted in hematoxylin and eosin stain (x200). (C) ATPase pH 4.6 stain reveals atrophy of type 1 fibers (dark brown stain, x200). (D) ATPase pH 9.4 stain reveals a predominance of type 2 fibers (brown stain, x100).
jkms-20-283-g006.jpg
PMC2808607_03_jkms-20-283-g006.jpg
F6
A muscle biopsy from the quadriceps muscle showed an increase in the number of internal nuclei, mild variation in the muscle fiber diameter, scattered small-angulated myofibers and fatty ingrowth (Fig. 6B). There was marked atrophy of type 1 fibers with a predominance of type 2 fibers (Fig. 6C, D).