Table 5. [Differential Diagnosis of CHKB-Related Muscular...]. - GeneReviews®

Gene	Disease	MOI	Features of Differential Diagnosis
AVADVL	Later-onset episodic myopathy w/intermittent rhabdomyolysis (See Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.)	AR	Myalgia & weakness	Prolonged rhabdomyolysis triggered by exercise, fasting, cold exposure, or fever
CPT2 ²	Carnitine palmitoyltransferase II deficiency, myopathic form	AR	Myalgia	No cardiac involvement No sign of myopathy between attacks Prolonged rhabdomyolysis triggered by exercise, fasting, cold exposure, or stress
PYGM ²	Glycogen storage disease type V (McArdle disease)	AR	Myalgia & weakness	No cardiac involvement Exercise-induced rhabdomyolysis

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Gene	Disease	MOI	Features of Differential Diagnosis
Gene	Disease	MOI	Similar to CHKB-MD ¹	Distinguishing from CHKB-MD
AVADVL	Later-onset episodic myopathy w/intermittent rhabdomyolysis (See Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.)	AR	Myalgia & weakness	Prolonged rhabdomyolysis triggered by exercise, fasting, cold exposure, or fever
CPT2 ²	Carnitine palmitoyltransferase II deficiency, myopathic form	AR	Myalgia	No cardiac involvement No sign of myopathy between attacks Prolonged rhabdomyolysis triggered by exercise, fasting, cold exposure, or stress
PYGM ²	Glycogen storage disease type V (McArdle disease)	AR	Myalgia & weakness	No cardiac involvement Exercise-induced rhabdomyolysis