Disease #01957

Official abbreviation HML
Name myopathy with lactic acidosis, hereditary (HML)
OMIM ID 255125
Human Phenotype Ontology Project (HPO) HPO
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.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
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
Legend