All individuals with variants in gene PLIN4

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00410467 family PubMed: Ruggieri 2020 6-generation family, 22 affected (9F, 13M) F;M no Italy - - - - - MYOP see paper; ..., progressive myopathy, rimmed ubiquitin-positive autophagic vacuolation 1 1 Johan den Dunnen
00460589 Fam1 PubMed: Yang 2022 5-generation family, 13 affected (5F, 8M) F;M - China - - - - - MYOP see paper; ..., slowly progressing proximal lower limb weakness beginning 45y–65y; serum creatine kinase (CK) levels normal to mildly elevated; EMF myopathic changes, myotonic discharges; some patients (III4, III5, III6) asymptomatic but showed EMG myopathic changes 1 13 Johan den Dunnen
00460590 Fam2 PubMed: Yang 2022 2-generation family, 6 affected (3F, 3M) F;M - China - - - - - MYOP see paper; ..., muscle weakness beginning 20y-29y; CK levels mildly elevated; EMG myopathic changes 1 6 Johan den Dunnen
00460591 family PubMed: Wang 2022 4-generation family, 10 affected (10M) M - China - - - - - LGMD see paper; ..., limb-girdle weakness; proximal muscle weakness lower limbs, weakness developed slowly, manifesting as muscle involvement proximal upper limb, and distal muscles partially involved 1 1 Johan den Dunnen
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