Individual #00078741

ID_report -
Reference PubMed: Jaiswal 2007, PubMed: Mahjneh 2010
Remarks family 2 affected brothers
Gender M
Consanguinity -
Country Finland
Population -
Age/Death >44y (later than 44 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases dystrophy, muscular, Miyoshi, type 3
Owner name Johan den Dunnen


Phenotypes

dystrophy, muscular, Miyoshi, type 3 (-)   Add phenotype for this disease

AscendingPhenotype ID     

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Owner     
0000058500 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) - - Familial, autosomal recessive 44y - 20y - - Johan den Dunnen



Screenings


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Owner     
0000078929 DNA SEQ - - ANO5 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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DNA change (hg38)     

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Protein level     
11 Paternal (confirmed) +/. g.22296151C>T g.22274605C>T - - ANO5_000006 not in 308 conrol chromosomes PubMed: Bolduc 2010, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 20 NM_213599.2:c.2272C>T - - r.(?) p.(Arg758Cys) - - - - - - - - - - - - - - - - - - -
11 Maternal (confirmed) +/. g.22296151C>T g.22274605C>T - - ANO5_000006 not in 308 conrol chromosomes PubMed: Bolduc 2010, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 20 NM_213599.2:c.2272C>T - - r.(?) p.(Arg758Cys) - - - - - - - - - - - - - - - - - - -
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