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36 Possible Causes for All Reported Mutations Have Occurred De Novo, Rectus Medial Atrophy

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  • Congenital Fibrosis of Extraocular Muscles Type 3A

    A mutation screen involving 29 unrelated families revealed that 13 had eight TUBB3 pathogenic variants and all occurred de novo (Tischfield et al. 2010).[preventiongenetics.com] Severe phenotype has been reported in patients with de novo mutations in TUBB3 (Poirier et al. 2010).[preventiongenetics.com] So far only missense variants have shown to be causative for TUBB3 -associated disorders (Human Gene Mutation Database).[preventiongenetics.com]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Moderate fatty infiltration of the medial compartment and rectus femoris is shown (RF). The preservation of the gracilis (Gr) muscle was noted at this level.[nature.com] Medial compartments are intact.[nature.com] (E) Middle axial thigh image showing severe fatty atrophy of the posterior compartment and vastus muscle groups of the anterior compartment.[nature.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Distal Hereditary Motor Neuropathy Type 1

    Moderate fatty infiltration of the medial compartment and rectus femoris is shown (RF). The preservation of the gracilis (Gr) muscle was noted at this level.[nature.com] Medial compartments are intact.[nature.com] (E) Middle axial thigh image showing severe fatty atrophy of the posterior compartment and vastus muscle groups of the anterior compartment.[nature.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Kallmann Syndrome

    Qualitative assessment of olfactory bulb region comprised bulb atrophy and rectus and medial orbital gyrus ptosis; quantitative assessment measured olfactory fossa depth and[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Xia-Gibbs Syndrome
    Missing: Rectus Medial Atrophy
  • Hypopituitarism

    All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org] We have subsequently reported six patients harbouring de novo heterozygous mutations in SOX2, resulting in loss of function of the mutant protein, four of whom were previously[web.archive.org]

    Missing: Rectus Medial Atrophy
  • Chronic Progressive External Ophthalmoplegia

    Unlike the profound EOM atrophy typical of neurogenic paralysis, anterior volumes of medial rectus, lateral rectus, and inferior rectus muscles in CPEO were not smaller than[ncbi.nlm.nih.gov] MRI may be helpful in the diagnosis, in one study volumes of medial rectus, lateral rectus, and inferior rectus muscles in CPEO were not smaller than normal (in contrast to[en.wikipedia.org] EOM function was clinically diminished in CPEO, most markedly for the superior rectus (SR) and levator muscles.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Optic Atrophy

    Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov] Of interest, de novo SCN2A mutations have also been reported in five patients without seizures but with ID (n 3) and/or autism (n 3).[ncbi.nlm.nih.gov]

    Missing: Rectus Medial Atrophy
  • Limb-Girdle Muscular Dystrophy

    […] femoris atrophy More severe disease: Quadriceps, Adductors & Medial gastrocnemius Asymmetry: Some muscles Muscle Collagen: XII reduced in muscle membranes; VI normal Myopathic[neuromuscular.wustl.edu] Micrognathia, High-arched palate Skin: Atrophic scarring Progression: Mild or Improvement Heart: Normal Laboratory Serum CK: Normal to 1300 EMG: Normal or Myopathic MRI Common: Rectus[neuromuscular.wustl.edu]

    Missing: All Reported Mutations Have Occurred De Novo
  • Dystrophic Epidermolysis Bullosa

    All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se] Here we report another de novo mutation of c.5282G A (p.Gly1761Asp) in exon 60.[medicaljournals.se] Other subtypes of DDEB, pretibial, nails only and bullous dermolysis of newborns occur less frequently 2.[medicaljournals.se]

    Missing: Rectus Medial Atrophy

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