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7 Possible Causes for Allelic to Myosin Storage Myopathy

  • Muscular Dystrophy

    Genetically related (allelic) disorders are familial hypertrophic cardiomyopathy 1 and myosin storage myopathy, however, the clinical picture of MPD1 is distinct from that[orpha.net] Differential diagnosis Differential diagnoses include milder congenital myopathies (central core disease and centronuclear myopathy) and distal myopathies (Udd distal myopathy[orpha.net] , Nonaka distal myopathy, Markesbery-Griggs distal myopathy) (see these terms).[orpha.net]

  • Distal Myopathy Type 3

    Genetically related (allelic) disorders are familial hypertrophic cardiomyopathy 1 and myosin storage myopathy, however, the clinical picture of MPD1 is distinct from that[orpha.net] Differential diagnosis Differential diagnoses include milder congenital myopathies (central core disease and centronuclear myopathy) and distal myopathies (Udd distal myopathy[orpha.net] , Nonaka distal myopathy, Markesbery-Griggs distal myopathy) (see these terms).[orpha.net]

  • Left Ventricular Noncompaction

    […] dominant Ebstein anomaly with LVNC; autosomal dominant and recessive myosin storage myopathy; Laiang distal myopathy; and scapuloperoneal syndrome, myopathic type).[onlinejacc.org] Similar, but less complex, is the list of CMPs allelic at the MYBPC3 locus (HCM, DCM, and LVNC) (53–55) ( Figure 6 ), with lethal phenotypes in infants who carry compound[onlinejacc.org] Mutations in the MYH7 gene were reported in both children and adults with CMP and LVNC (55–57) ; 9 diseases are allelic at the same locus (LVNC5; HCM; DCM; RCM; familial autosomal[onlinejacc.org]

  • Myosin Storage Myopathy

    Genetically related (allelic) disorders are familial hypertrophic cardiomyopathy 1 and myosin storage myopathy, however, the clinical picture of MPD1 is distinct from that[orpha.net] Differential diagnosis Differential diagnoses include milder congenital myopathies (central core disease and centronuclear myopathy) and distal myopathies (Udd distal myopathy[orpha.net] , Nonaka distal myopathy, Markesbery-Griggs distal myopathy) (see these terms).[orpha.net]

  • Zebra Body Myopathy

    storage myopathy.[journals.lww.com] There has been further clarification of the pathobiology of the congenital myopathies, including determination of the basis of epigenetic effects: silencing of the normal allele[journals.lww.com] […] disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/β-cardiac myosin which was already known to be mutated in dominant myosin[journals.lww.com]

  • Nemaline Myopathy Type 4

    storage myopathy.[journals.lww.com] There has been further clarification of the pathobiology of the congenital myopathies, including determination of the basis of epigenetic effects: silencing of the normal allele[journals.lww.com] […] disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/β-cardiac myosin which was already known to be mutated in dominant myosin[journals.lww.com]

  • Welander Distal Myopathy

Further symptoms