Pseudometabolic presentation of dystrophinopathy due to a missense mutation
Veerapandiyan A, Shashi V, Jiang Y, Gallentine W, Schoch K, Smith E. Pseudometabolic presentation of dystrophinopathy due to a missense mutation. Muscle & Nerve 2010, 42: 975-979. PMID: 21104870, PMCID: PMC5506871, DOI: 10.1002/mus.21823.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentChildDystrophinExerciseHumansMaleMuscle, SkeletalMuscular DiseasesMutation, MissenseMyoglobinuriaConceptsMuscle stiffnessNormal neurological examinationRetrospective chart reviewIdentical point mutationMissense mutationsWestern blot analysisExertional myalgiaChart reviewNeurological examinationClinical findingsExercise intoleranceRecurrent rhabdomyolysisMetabolic myopathyClinical reportsDMD geneUnrelated boysInaccurate diagnosisMyalgiaRhabdomyolysisFurther studiesBlot analysisSpecific mutationsExon 15Amino acid substitutionsBoys