Disease #03046

Official abbreviation -
Name myopathy, early-onset, with fatal cardiomyopathy
OMIM ID 611705
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene TTN
Associated tissues -
Disease features -
Remarks -


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00057973 - PubMed: Carmignac 2007 4-generation family, affected 1 - yes Morocco - 17y 0 - - myopathy, early-onset, with fatal cardiomyopathy TTN TTN 2 1 Johan den Dunnen
00057974 - PubMed: Carmignac 2007 4-generation family, affected 2 - yes Morocco - 8y 0 - - myopathy, early-onset, with fatal cardiomyopathy TTN TTN 2 1 Johan den Dunnen
00057975 - PubMed: Carmignac 2007 4-generation family, affected 3 - yes Morocco - 17y 0 - - myopathy, early-onset, with fatal cardiomyopathy TTN TTN 2 1 Johan den Dunnen
00057976 - PubMed: Carmignac 2007 4-generation family, affected 1 - yes Sudan - 19y6m 0 - - myopathy, early-onset, with fatal cardiomyopathy TTN TTN 2 1 Johan den Dunnen
00057977 - PubMed: Carmignac 2007 4-generation family, affected 2 - yes Sudan - 17y6m 0 - - myopathy, early-onset, with fatal cardiomyopathy TTN TTN 2 1 Johan den Dunnen
00058357 - PubMed: Carmignac 2007 4-generation family, unaafected parentsunaffected heterozygous carriers - yes Morocco - - 0 - - myopathy, early-onset, with fatal cardiomyopathy TTN TTN 2 2 Johan den Dunnen
00058358 - PubMed: Carmignac 2007 4-generation family, unaafected parentsunaffected heterozygous carriers - yes Sudan - - 0 - - myopathy, early-onset, with fatal cardiomyopathy TTN TTN 2 2 Johan den Dunnen
00080869 - Trujillano et al., submitted unaffected parents - - - - - 0 - - myopathy, early-onset, with fatal cardiomyopathy TTN TTN 1 1 Daniel Trujillano
00080870 - Trujillano et al., submitted unaffected parents - - - - - 0 - - myopathy, early-onset, with fatal cardiomyopathy TTN TTN 1 1 Daniel Trujillano
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