Hereditary myopathy with lactic acidosis
HML

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Prevalence (%) of clinical parameters based on data from 1 references describing 10 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Exercise intolerance skeletal 100 % 19567699 2013-07-10
Myopathy skeletal 100 % 19567699 2013-07-10
Lactate accumulation circulatory 100 % 19567699 2013-07-10
Fatigue skeletal 100 % 19567699 2013-07-10
Muscle weakness skeletal 50 % 19567699 2013-07-10



List of references:


Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
Gittan Kollberg, Már Tulinius, Atle Melberg, Niklas Darin, Oluf Andersen, Daniel Holmgren, Anders Oldfors, Elisabeth Holme,



Brain : a journal of neurology - Aug 2009