Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
2017
Abstract Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical
central core diseaseto susceptibility to
malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional
myopathies, including
centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1 -related
centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder. Early onset of symptoms with
hypotonia, motor developmental delay,
proximal muscle weakness, and a stable course were common clinical features in the cohort.
Ptosisand/or
ophthalmoparesis,
facial weakness, thoracic deformities, and spinal involvement were also frequent but variable. A common imaging pattern consisted of selective involvement of the vastus lateralis, adductor magnus, and
biceps brachiiin comparison to adjacent muscles. In addition to a variable prominence of
central nuclei,
muscle biopsyfrom 20 patients showed type 1 fiber predominance and a wide range of intermyofibrillary architecture abnormalities. All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. This work expands the phenotypic characterization of patients with recessive RYR1 -related
centronuclear myopathyby highlighting common and variable clinical, histological, and imaging findings in these patients.
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