Disease #01957

Official abbreviation HML
Name myopathy with lactic acidosis, hereditary (HML)
OMIM ID 255125
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 22
Phenotype entries for this disease 20
Associated with 1 gene ISCU
Associated tissues -
Disease features muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, palpitations; biochemical features include lactic acidosis and (rarely) rhabdomyolysis; chronic disorder with remission and exacerbation of muscle phenotype
Remarks autosomal recessive


Individuals

22 entries on 1 page. Showing entries 1 - 22.
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00105916 mt4460 - - M no Italy - - 0 - - HML - - ISCU 1 1 Daniele Ghezzi
00105922 18304497-P1 PubMed: Hall 1993 - - - Sweden - >37y 0 - - HML lifelong exercise intolerance, symptoms muscle fatigue, shortness of breath, tachycardia with minor levels physical exertion with episodes myoglobinuria; low work/oxidative capacity, deficiency succinate dehydrogenase/aconitase ISCU ISCU 1 1 Johan den Dunnen
00105923 18304497-P2 PubMed: Mochel 2008 - - - Sweden - >39y 0 - - HML lifelong exercise intolerance, symptoms muscle fatigue, shortness of breath, tachycardia with minor levels physical exertion with episodes myoglobinuria; low work/oxidative capacity, deficiency succinate dehydrogenase/aconitase ISCU ISCU 1 1 Johan den Dunnen
00105924 18304497-FamA.P3 PubMed: Drugge 1995 3-generation family, 4 affecteds - - Sweden - >66y 0 - - HML lifelong exercise intolerance, symptoms muscle fatigue, shortness of breath, tachycardia with minor levels physical exertion with episodes myoglobinuria; low work/oxidative capacity, deficiency succinate dehydrogenase/aconitase ISCU ISCU 1 4 Johan den Dunnen
00105925 18304497-c PubMed: Mochel 2008 - - - - - - 0 - - HML - ISCU ISCU 1 3 Johan den Dunnen
00105926 18296749-c PubMed: Mochel 2008 - - - Sweden - - 0 - - HML - ISCU ISCU 1 1 Johan den Dunnen
00105927 18296749-FamA PubMed: Olsson 2009 family, 4 affecteds (3F, 1M) - - Sweden - - 0 - - HML - ISCU ISCU 1 4 Johan den Dunnen
00105928 18296749-FamB PubMed: Olsson 2009 family, 2 affecteds (F, M) - - Sweden - - 0 - - HML - ISCU ISCU 1 2 Johan den Dunnen
00105929 18296749-FamC PubMed: Olsson 2009 family, 3 affecteds (2F, 1M) - - Sweden - - 0 - - HML - ISCU ISCU 1 3 Johan den Dunnen
00105930 18296749-FamD PubMed: Olsson 2009 family, 3 affecteds (3M) M - Sweden - - 0 - - HML - ISCU ISCU 1 3 Johan den Dunnen
00105931 18296749-FamE PubMed: Olsson 2009 family, 1 affected female F - Sweden - - 0 - - HML - ISCU ISCU 1 1 Johan den Dunnen
00105932 18296749-FamF PubMed: Olsson 2009 family, 1 affected male M - Sweden - - 0 - - HML - ISCU ISCU 1 1 Johan den Dunnen
00105933 18296749-FamG PubMed: Olsson 2009 family, 2 affecteds (F, M) - - Sweden - - 0 - - HML - ISCU ISCU 1 2 Johan den Dunnen
00105934 18296749-FamH PubMed: Olsson 2009 family, 1 affected male M - Sweden - - 0 - - HML - ISCU ISCU 1 1 Johan den Dunnen
00105935 18296749-FamI PubMed: Olsson 2009 family, 1 affected male M - Sweden - - 0 - - HML - ISCU ISCU 1 1 Johan den Dunnen
00105936 19567699-FamG PubMed: Kollberg 2009 family, 2 affected males M - Sweden - - 0 - - HML - ISCU ISCU 1 2 Johan den Dunnen
00105937 19567699-FamA PubMed: Kollberg 2009 family, 1 affected male M - Sweden - - 0 - - HML - ISCU ISCU 1 1 Johan den Dunnen
00105938 19567699-FamB PubMed: Kollberg 2009 family, 1 affected male M - Sweden - - 0 - - HML - ISCU ISCU 1 1 Johan den Dunnen
00105939 19567699-FamC PubMed: Kollberg 2009 family, 1 affected female F - Sweden - - 0 - - HML - ISCU ISCU 1 1 Johan den Dunnen
00105940 19567699-FamD PubMed: Kollberg 2009 family, 1 affected male M - Sweden - - 0 - - HML - ISCU ISCU 1 1 Johan den Dunnen
00105941 19567699-FamE PubMed: Kollberg 2009 family, 2 affected males M - Sweden - - 0 - - HML - ISCU ISCU 1 2 Johan den Dunnen
00105942 19567699-FamF PubMed: Kollberg 2009 family, 2 affected females F - Sweden - - 0 - - HML - ISCU ISCU 1 2 Johan den Dunnen
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