Disease #02465

Official abbreviation HMERF
Name myopathy, hereditary with early respiratory failure (HMERF)
OMIM ID 603689
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 28
Phenotype entries for this disease 27
Associated with 1 gene TTN
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Disease features -
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Individuals

28 entries on 1 page. Showing entries 1 - 28.
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00057978 - - 4-generation family, 8 affecteds - - Sweden - - 0 - - HMERF cardiomyopathy, early respiratory failure (HMERF) TTN TTN 1 8 Johan den Dunnen
00057979 - - 3-generation family, 4 affecteds - - Sweden - - 0 - - HMERF cardiomyopathy, early respiratory failure (HMERF) TTN TTN 1 4 Johan den Dunnen
00057980 - - unrelated patient - - Sweden - - 0 - - HMERF cardiomyopathy, early respiratory failure (HMERF) TTN TTN 1 1 Johan den Dunnen
00058418 - PubMed: Palmio 2014 3-generation family, 3 affecteds F no France - - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 3 Claire Chauveau
00058419 - PubMed: Chinnery 2001, PubMed: Pfeffer 2012 6-generation family, 24 affecteds (15F, 9M) - no United Kingdom (Great Britain) - - 0 - - HMERF hereditary myopathy with early respiratory failure TTN CDCA7, CERKL, GORASP2, OSBPL6, RAPGEF4, TTN, WIPF1 19 24 Claire Chauveau
00058422 - PubMed: Palmio 2014 2-generation family, 1 affected - no United Kingdom (Great Britain) - - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 1 Claire Chauveau
00058423 - PubMed: Izumi 2013 7-generation family, 20 affecteds (7F, 13M) - no Japan - - 0 - - HMERF myofibrillar myopathy/Hereditary myopathy with early respiratory failure IKBKB, TTN IKBKB, TTN 2 20 Claire Chauveau
00058424 - PubMed: Palmio 2014 3-generation family, 2 affecteds - no Germany - - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 2 Claire Chauveau
00058425 - PubMed: Toro 2013 3-generation family, 7 affected males M no United States Caucasian, Europe - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 7 Claire Chauveau
00058429 - PubMed: Ohlsson 2012 4-generation family, 5 affecteds (3F, 2M) - no Sweden - - 0 - - HMERF - TTN TTN 1 5 Claire Chauveau
00058438 - PubMed: Ohlsson 2012 2-generation family, 2 affected (F, M) - no Sweden - - 0 - - HMERF - TTN TTN 1 2 Johan den Dunnen
00058439 - PubMed: Ohlsson 2012 2-generation family, 2 affected (F, M) - no Sweden - - 0 - - HMERF - TTN TTN 1 2 Johan den Dunnen
00058440 - PubMed: Palmio 2014 3-generation family, 10 affecteds (2F, 8M) - no Finland Caucasian - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 10 Johan den Dunnen
00058441 - PubMed: Palmio 2014 4-generation family, 14 affecteds (7F, 7M) - no Sweden Caucasian - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 14 Johan den Dunnen
00058442 - PubMed: Palmio 2014 4-generation family, 11 affecteds (6F, 5M) - no Sweden Caucasian - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 11 Johan den Dunnen
00058443 - PubMed: Palmio 2014 2-generation family, 1 affected - no United Kingdom (Great Britain) Caucasian - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 1 Johan den Dunnen
00058444 - PubMed: Palmio 2014 2-generation family, 1 affected - no Italy Caucasian - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 1 Johan den Dunnen
00058445 - PubMed: Palmio 2014 3-generation family, 2 affecteds (F, M) - no Argentina Caucasian, Italian - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 2 Johan den Dunnen
00058446 - PubMed: Palmio 2014 2-generation family, 1 affected, unaffected carrier parents - no Italy - - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 2 3 Johan den Dunnen
00058447 - PubMed: Palmio 2014 2-generation family, 1 affected, unaffected carrier parents M yes France Portugese - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 2 3 Johan den Dunnen
00058448 - PubMed: Palmio 2014 2-generation family, 2 affecteds (F, M) - no France Portugese - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 2 Johan den Dunnen
00058449 - PubMed: Pfeffer 2012 4-generation family, 9 affecteds (4F, 5M) - no United Kingdom (Great Britain) - - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 9 Johan den Dunnen
00058450 - PubMed: Pfeffer 2012 3-generation family, 3 affecteds (F, 2M) - no United Kingdom (Great Britain) - - 0 - - HMERF hereditary myopathy with early respiratory failure TTN TTN 1 3 Johan den Dunnen
00058451 - PubMed: Toro 2013 3-generation family, 1 affected; father, paternal uncle and aunt had similar phenotype, died in 40s F no Canada American, Indian, East - 0 - - HMERF - TTN TTN 1 1 Johan den Dunnen
00058452 - PubMed: Toro 2013, Journal: Toro 2013 2-generation family, 1 affected; probably affected mother F no Spain - - 0 - - HMERF - TTN TTN 1 1 Johan den Dunnen
00064623 - PubMed: Pfeffer 2012 4-generation family, 9 affecteds (4F, 5M) M;F no United Kingdom (Great Britain) - - 0 - - HMERF hereditary myopathy with early respiratory failure; see paper … TTN TTN 1 9 Johan den Dunnen
00064624 - PubMed: Pfeffer 2012 3-generation family, 3 affecteds (1F, 2M) M;F no United Kingdom (Great Britain) - - 0 - - HMERF hereditary myopathy with early respiratory failure; see paper … TTN TTN 1 3 Johan den Dunnen
00276343 daughter 2-generation family, affected mother and daughter - F - - - - 0 - - HMERF - TTN TTN 1 2 Svetlana Gorokhova
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