Disease #02603 (DMAT (myopathy, distal, with anterior tibial onset (DMAT)), OMIM:606768)

Official abbreviation DMAT
Name myopathy, distal, with anterior tibial onset (DMAT)
OMIM ID 606768
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene DYSF
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Disease features -
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00215180 17070050-PatXVI PubMed: De Luna 2006 - - - Spain - - 0 - - DMAT CPK elevated (HP:0003236) 10000 DYSF DYSF 2 1 Johan den Dunnen
00215229 Fam71/Fam75 PubMed: Liu, PubMed: Aoki, OMIM:var0002 - - - Spain - - 0 - - DMAT - DYSF DYSF 2 2 Johan den Dunnen
00215230 - PubMed: Illa, OMIM:var0002 - - - Spain - - 0 - - DMAT - DYSF DYSF 2 1 Johan den Dunnen
00215337 17070050-PatXXII PubMed: De Luna 2006 - - - Spain - - 0 - - DMAT CPK elevated (HP:0003236) 2400 DYSF DYSF 2 1 Johan den Dunnen
00215779 18974570-Patb1 PubMed: Khadilkar 2008 elder of 2 affected brothers M - India - - 0 - - DMAT CPK elevated (HP:0003236) 4036 IU/l DYSF DYSF 1 1 Johan den Dunnen
00215780 18974570-Patb2 PubMed: Khadilkar 2008 younger of 2 affected brothers M - India - - 0 - - DMAT lower limb weakness; CPK elevated (HP:0003236) 18344 IU/l DYSF DYSF 1 1 Johan den Dunnen
00215787 19493611-Pat5 PubMed: Liewluck 2009 - M - Thailand - >31y 0 - - DMAT CPK elevated (HP:0003236) 9040 DYSF DYSF 3 1 Johan den Dunnen
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