All individuals with variants in gene POPDC3

7 entries on 1 page. Showing entries 1 - 7.
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00445374 family PubMed: Ullah 2022 4-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Pakistan - - - - - LGMD2 see paper; ..., 3y-difficulty in climbing stairs/walking without aid; proximal/lower limb muscle weakness, especially calf muscle; high serum creatine kinase levels (324 U/L) 1 1 Johan den Dunnen
00445376 FamIPat1 PubMed: Vissing 2019 2-generation family, affected brother/sister, unaffected heterozygous mother/relatives M yes Denmark - - - - - LGMD see paper; ..., normal pregnancy; calf hypertrophy ; no cardiac Holter/ECG anomalies; falls, poor runner ; creatine kinase level 2000-9227 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies 1 2 Johan den Dunnen
00445377 FamIPat2 PubMed: Vissing 2019 sister F yes Denmark - - - - - LGMD see paper; ..., normal pregnancy; calf hypertrophy ; no cardiac Holter/ECG anomalies; poor runner ; creatine kinase level 1200-1770 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies 1 1 Johan den Dunnen
00445378 FamIIPat1 PubMed: Vissing 2019 2-generation family, 1 affected, unaffected parents/relatives M yes Iran - - - - - LGMD see paper; ..., normal pregnancy; no calf hypertrophy ; no cardiac Holter/ECG anomalies; poor runner ; creatine kinase level 1050-7650 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies 1 1 Johan den Dunnen
00445379 FamIIIPat1 PubMed: Vissing 2019 2-generation family, affected brothers, unaffected heterozygous mother/relatives M yes Spain - - - - - LGMD see paper; ..., normal pregnancy; no calf hypertrophy ; no cardiac Holter/ECG anomalies; poor runner ; creatine kinase level 2000-4500 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies 1 2 Johan den Dunnen
00445380 FamIIIPat2 PubMed: Vissing 2019 brother M yes Spain - - - - - LGMD see paper; ..., normal pregnancy; calf hypertrophy ; no cardiac Holter/ECG anomalies; atrophy of gastrocnemius ; creatine kinase level 4000-6000 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies 1 1 Johan den Dunnen
00466377 - Pending - F - France - - - - - LGMDR26 - 1 1 Camille Verebi
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