Disease #03309 (dystrophy, muscular, Miyoshi, type 3, OMIM:613319)

Official abbreviation -
Name dystrophy, muscular, Miyoshi, type 3
OMIM ID 613319
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene ANO5
Associated tissues -
Disease features -
Remarks -


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00078741 - PubMed: Jaiswal 2007, PubMed: Mahjneh 2010 family 2 affected brothers M - Finland - >44y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC Sin 4, quadriceps atrophy, quadriceps MRC 4 > 2, calf muscles hypertrophy, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 15860; >44y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078742 - PubMed: Jaiswal 2007, PubMed: Mahjneh 2010 family 2 affected brothers M - Finland - >50y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 12290; >50y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078743 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >72y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC 4, no quadriceps atrophy, quadriceps MRC 4, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 5400; >72y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078744 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >67y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC 5, quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 4500; >67y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078745 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >53y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 4800; >53y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078748 - - - M - United States - - 0 - - dystrophy, muscular, Miyoshi, type 3 - ANO5 ANO5 2 1 Tom Winder
00078817 - PubMed: Wahbi 2012 - M - France - - 0 - - dystrophy, muscular, Miyoshi, type 3 raised CPK (HP:0003236) 3000; >54y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078819 - PubMed: Wahbi 2012 - M - France - - 0 - - dystrophy, muscular, Miyoshi, type 3 ECG left ventricular hypertrophy; raised CPK (HP:0003236) 1433; >30y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078820 - PubMed: Wahbi 2012 - M - France - - 0 - - dystrophy, muscular, Miyoshi, type 3 raised CPK (HP:0003236) 2991; >33y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078823 - PubMed: Wahbi 2012 - M - France - - 0 - - dystrophy, muscular, Miyoshi, type 3 raised CPK (HP:0003236) 686; >48y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078826 - PubMed: Wahbi 2012 - F - France - - 0 - - dystrophy, muscular, Miyoshi, type 3 ischemic heart disease father; raised CPK (HP:0003236) 3256; >58y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
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