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Table 1 Cohort Characteristics

From: Hypoglycemia in patients with congenital muscle disease

Patient Characteristics

Hypoglycemia-related Characteristics

Patient ID

Age at Survey (y)

Age at Diagnosis (y)

Diagnosis

Ambulation status

FVC % pred (age)

Age of 1st episode of hypoglycemia (y)

Caregiver estimate of # of lifetime hypoglycemic episodes

# of hospital encounters reviewed

Age of most recent hypoglycemic episode (y)

History of FTT

Supplemental Nutrition

BMI percentileb

ID 1

7

0

LAMA2-RD

c.2 T > C; c.47delG & muscle biopsy

N

51% (5y)

5

5–8

6

6a

Y

74

ID 2

6

0

LAMA2-RD

c.7732 C > T & muscle biopsy

N

1

16–25

2

5a

Y

G-Tube, GJ, TPN

ID 3

14

1

LAMA2-RD

c.2538-1G > C & muscle biopsy

N

86% (13y)

2

> 25

7

14a

Y

G-tube

82

ID 4

14

2

DNM2-RM

c.1102G > A

Y

1

> 25

4

3

N

60

ID 5

5

2

LAMA2-RD

c.3976C > T; c.4523 + 1G > A & muscle biopsy

N

4

< 5

4

5a

ID 6

14

1

TTN-RM/ CNM

c.32854 G > C; c.37112-1G > A & muscle biopsy

Y

44% (12y)

2

< 5

2

7

Y

G-tube

< 0.1

ID 7

7

0

TTN-RM

c.92992A > G; c.19241C > A & muscle biopsy

Y

104% (8y)

2

5–8

5

5

Y

G-tube

48

ID 8

9

0

LAMA2-RD

c.725G > A; c.7572 + 1G > T & muscle biopsy

N

5

5–8

1

8

N

G-tube

ID 9

17

1

COL6-RD

COL6A3i15/e16;c.6157–9 _c.6177del30 & muscle biopsy

N

26% (16y)

7

< 5

1

8

Y

0.2

ID 10

10

10

aDG

muscle biopsy

N

4

< 5

4

Y

G-tube

  1. ID identification, y years, Pred Predicted, FVC Forced Vital Capacity on Pulmonary Function Testing, BMI body mass index, RD related dystrophy, RM related myopathy, aDG alpha-dystroglycanopathy, Y Yes, N No, G-tube gastrostomy tube, GJ gastro-jejunostomy tube, TPN total parenteral nutrition, aHypoglycemia episodes ongoing at the time of data collection, bReported closest available to onset of hypoglycemia, − Not available