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GENATLAS PHENOTYPE
last update : 03-12-2020
Symbol MUNC45BD
Location 17q12
Name myopathy with UNC45B deficiency
Corresponding gene UNC45B
Main clinical features
  • childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency, calf hypertrophy, dysphagia; serum creatine kinase (CK) levels were reported within normal reference
    • histologic findings: moderate variation in fiber size with rounded and elongated atrophic fibers and numerous internalized nuclei, or irregular areas of oxidative defects and myofibrillar disorganization; evidence of fuschinophilic inclusions
  • muscle of UNC45B-affected individuals had a characteristic “marbled-like” appearance on fat-sensitive T1 MR imaging sequences, which could potentially be a characteristic and thus diagnostically helpful finding
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Remark(s) . c.2261G>A UNC45B variant results in a hypomorphic splice variant (PMID: 33217308))
  • this disorder could be considered a myofibrillar dystrophy because the excessive nuclear centralization seen on histology is a marker of an activated regenerative process (PMID: 33217308))