Table 1

Laboratory findings in four patients with debrancher deficiency myopathy

Variable	Patient 1	Patient 2	Patient 3	Patient 4	Normal
Creatine kinase (U/l)	424	410	810	239	Women <80 Men <140
Glutamic oxaloacetic transaminase (U/l)	25	45	101	613	6-17
Cholesterol (U/l)	6.15	4.20	4.75	5.51	2.71-5.69
Abnormal response to glucagon injection	NP	NP	+	+
Pathological exercise test	+	+	NP	NP
Echocardiography:
Cardiomyopathy	+	++	+	-
Nerve conduction study:
Reduced nerve conduction velocity	+	-	+	-
Electromyography:
Fibrillation activity	+	++	++	+
Myopathic features	++	++	++	+
Neurogenic features	+	+	+	+
Muscle biopsy:
Glycogen concentration (mg/g NCP)	179	149	180	NP	60-105
Amylo-1,6-glucosidase (U/g NCP)	1.0	1.1	NP	NP	3.0-6.3
Acid maltase (U/g NCP)	2.0	2.0	NP	NP	1.2-3.5
N-acetyl-glucosaminidase (U/g NCP)	4.3	3.3	NP	NP	2.6-5.4
PAS Positive vacuolar myopathy	++	+	++	NP
Cytoplasmatic glycogen pools in electron microscopy	++	+	+	NP
Liver biopsy suggestive of GSD III	NP	++	++	++

NCP=non-collagen protein; PAS=periodic acid Schiff; GSD=glycogen storage disease. NP=laboratory test not performed; −=negative or absent; +/++= evident or present (two categories).