Disease #02179 (XMPMA;EDMD-6 (myopathy, X-linked, with postural muscle atrophy (XMPMA, Emery-Dreifuss muscular dystrophy 6 (EDMD-6))), OMIM:300696)

Official abbreviation XMPMA;EDMD-6
Name myopathy, X-linked, with postural muscle atrophy (XMPMA, Emery-Dreifuss muscular dystrophy 6 (EDMD-6))
OMIM ID 300696
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene FHL1
Associated tissues -
Disease features -
Remarks -


Individuals

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00205462 - PubMed: Windpassinger 2008 7-generation family, 12 affecteds M - Australia - - 0 - - XMPMA;EDMD-6 - FHL1 FHL1 1 4 Johan den Dunnen
00205463 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; early athletic habitus; elevated serum creatine phosphokinase (HP:0003236) 620 FHL1 FHL1 1 1 Johan den Dunnen
00205464 - PubMed: Schwarzmeier 1971, PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; early athletic habitus; musle biopsy myopathic; cardiomyopathy with arrhythmia; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 500-900 FHL1 FHL1 1 1 Johan den Dunnen
00205465 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 800-1200 FHL1 FHL1 1 1 Johan den Dunnen
00205466 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; early athletic habitus; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 780 FHL1 FHL1 1 1 Johan den Dunnen
00205467 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 700 FHL1 FHL1 1 1 Johan den Dunnen
00205468 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; musle biopsy myopathic; ; hypertrophic cardiomyopathy; ; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 550 FHL1 FHL1 1 1 Johan den Dunnen
00205469 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; normal heart; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 400-1774 FHL1 FHL1 1 1 Johan den Dunnen
00205470 - PubMed: Windpassinger 2008 male family 18179888 M - Australia - - 0 - - XMPMA;EDMD-6 MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 620 FHL1 FHL1 1 1 Johan den Dunnen
Legend   How to query