Search for dissertations about: "Hereditary myopathy with lactic acidosis"

Found 2 swedish dissertations containing the words Hereditary myopathy with lactic acidosis.

  2. 1. Genetic and functional studies of hereditary myopathy with lactic acidosis

    Author : Angelica Nordin; Monica Holmberg; Anders Oldfors; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary myopathy with lactic acidosis; ISCU; intron mutation; mouse model; tissue-specific splicing; medicinsk genetik; Medical Genetics;

    Abstract : Hereditary myopathy with lactic acidosis (HML, OMIM#255125) is an autosomal recessive disorder which originates from Västerbotten and Ångermanland in the Northern part of Sweden. HML is characterized by severe exercise intolerance which manifests with tachycardia, dyspnea, muscle pain, cramps, elevated lactate and pyruvate levels, weakness and myoglobinuria. READ MORE

  4. 2. The regulation of incorrect splicing of ISCU in hereditary myopathy with lactic acidosis

    Author : Denise F. R. Rawcliffe; Monica Holmberg; Helena Edlund; Diana Baralle; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; HML; ISCU; Splicing; SRSF3; PTBP1; RBM39; MBNL1; medicinsk genetik; Medical Genetics;

    Abstract : Patients suffering from hereditary myopathy with lactic acidosis (HML) can be found in the northern Swedish counties of Ångermanland and Västerbotten. HML is a rare autosomal recessive disease where patients display a low tolerance to exercise at an early age. READ MORE