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Table 1 Summary of findings in the living members in this family

From: Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

Patient Age at onset of symptoms (y) Age at last evaluation (y) Severity of weakness Contractures Foot deformities Scoliosis Cardiac involvement Disease progression Central nuclei Cores in type I fibers Cores in type II fibers Type I fibers Increase of connective tissue EMG
III.2 30 68 Severe distal AT contractures pes cavus No Yes Slow Yes Yes No Hypo No Myopathic
III.3 - 66 - - - - - - - - - - - -
III.4 35 61 Severe distal; mild proximal AT contractures pes cavus Yes No Slow Yes Yes No Hypo Yes Myopathic
IV.1 a 33 34 Moderate distal No pes cavus No No Slow - - - - NA Myopathic
IV.2 - 27 - - - - - - - - - - - -
  1. Abbreviations: Numbers refer to patients in family tree. y years, EMG electromyography, AT Achille's tendon, m myopathic, hypo hypotrophic, a she did not undergo a muscle biopsy