Metabolic Myopathy Mutation Profiles

Mutation Profile	Mutation	Frequency of Mutant Alleles (%)
Exercise Intolerance (8 mutations) ▪ Carnitine Palmitoyltransferase II deficiency ▪ Myophosphorylase Deficiency ▪ Myoadenylate Deaminase Deficiency	S113L Q413fs P50H G549D R50X G205S Q12X, P48L	60 20 <10 <5 60-80 10 95
Exercise Intolerance + Expanded CPT2 Mutation Analysis	Full profile plus R503C & R631C mutations in CPT2 gene
Carnitine Palmitoyltransferase II Deficiency	S113L Q413fs P50H G549D R503C R631C	60 20 <10 <5 <5 <5
Myophosphorylase Deficiency	R50X G205S	60-80 10
Myoadenylate Deaminase Deficiency	Q12X, P48L	95

Prerequisites for any Metabolic Myopathy Mutation Profiles

Clinical: Patient should have evidence of pain, cramps or stiffness with exertion ± myoglobinuria. Non-metabolic causes should be ruled out. A clinical summary must accompany all specimens sent for analysis.

Laboratory: Laboratory-based evidence for a metabolic myopathy should exist which may include but not be limited to elevated serum creatine kinase, an abnormal ischemic exercise test result, and/or an abnormal EMG. A summary of prior laboratory test results, including a histopathology report, must accompany all specimens sent for analysis.

Consent: An informed consent for DNA testing and HIPPA form must be signed by the patient and accompany the specimen.

Specimen Requirements for molecular testing: 5 mL whole blood in EDTA, shipped to arrive within 24h of collection by overnight carrier at room temperature; 50 mgs skeletal muscle biopsy snap frozen in liquid nitrogen and stored at -70ºC until shipment on dry ice by overnight carrier.

FYI: Before Contacting the Laboratory

Robert Guthrie Biochemical & Molecular Genetics Laboratory Room A-762, 100 High Street, Buffalo, NY 14203
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