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1 - 5 of 5 results found for CHKB. Did you mean: chb

  1. Myopathy associated with mutations in CHKB in three UK patients

    http://iris.ucl.ac.uk/iris/publication/349527/3

  2. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in...

    http://iris.ucl.ac.uk/iris/publication/872158/7

  3. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in...

    Three patients with CHKB deficient muscular dystrophy are described which broadens the previously described phenotype. Blood smear in one patient showed Jordans anomaly (vacuolated leukocytes). Gastrointestinal features occurred in two patients and

    http://iris.ucl.ac.uk/iris/publication/879973/7

  4. Alteration of mitochondrial membrane inner potential in three Italian patients with...

    © 2019 Congenital Muscular Dystrophies (CMDs) are a heterogeneous group of autosomal recessive disorders presenting at birth with psychomotor delay, cognitive impairment, muscle weakness and hypotonia. Here we described an alteration of

    http://iris.ucl.ac.uk/iris/publication/1649598/1

  5. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by...

    Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases

    http://iris.ucl.ac.uk/iris/publication/329144/2

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