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4 Possible Causes for Clinical Heterogeneity of Multiminicore Disease

  • Rigid Spine Syndrome

    Sultan Qaboos Univ Med J. 2015 Aug; 15(3): e364–e369. Abstract Objectives: Rigidity of the spine is common in adults but is rarely observed in children. The aim of this study was to report on rigid spine syndrome (RSS) among children in Oman. Methods: Data on children diagnosed with RSS were collected consecutively[…][ncbi.nlm.nih.gov]

  • Central Core Disease

    (CCD), and multiminicore disease (MmD).[medlink.com] Overview Congenital myopathies represent a clinically and genetically heterogeneous group of early-onset neuromuscular diseases with characteristic, but not always specific[medlink.com] 1994; last updated July 11, 2018; expires July 11, 2021 This article includes discussion of core myopathies within the group of congenital myopathies (CM), central core disease[medlink.com]

  • Congenital Fiber-Type Disproportion Myopathy

    Genetic heterogeneity, demonstrated in recent molecular genetic studies that reported mutations in two different genes in patients with multiminicore disease, the selenoprotein[jnnp.bmj.com] Inheritance may be misinterpreted in families in which clinical examination and laboratory studies are not performed on all family members.[jnnp.bmj.com]

  • Multicore Myopathy with External Ophthalmoplegia

    Genetic heterogeneity, demonstrated in recent molecular genetic studies that reported mutations in two different genes in patients with multiminicore disease, the selenoprotein[jnnp.bmj.com] Inheritance may be misinterpreted in families in which clinical examination and laboratory studies are not performed on all family members.[jnnp.bmj.com]

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