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Patient with SEPN1-related multiminicore disease (MmD) phenotype

A typical 10-year-old patient with SEPN1-related multiminicore disease (MmD) phenotype. Pictures A to D show asthenic, atrophic phenotype, decreased muscle bulk, rigid spine deformity, weakness in neck flexor muscles, and scoliosis. Muscle biopsy NADH staining demonstrates minicores is noted in figure E. (Courtesy of Dr. Goknur Haliloglu.)

Associated Disorders

  • Congenital muscular dystrophies
  • Congenital myopathies
  • Hypertrophic cardiomyopathies
  • Malignant hyperthermia
  • Malignant hyperthermia susceptibility