All individuals with variants in gene POPDC3

8 entries on 1 page. Showing entries 1 - 8.
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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
00473951 Fam9908426Pat1481 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - MD onset 22y with difficulty walking and Lt. lower limb weakness which extended to Rt. upper limb later; Mild cardiac problem; Muscle weakness, distal>proximal, Lt. leg & Rt. hand; Mild Claw toe; Mild pes cavus; Muscle wasting in distal of left leg & distal of right hand; Mild thenar & hypothenar atrophy; Tremor in right hand; Loss of tip-toe walking since 6-mo ago; Abnormal gait; Difficulty walking, running and climbing steps, mild; Elevated level of AST, ALT, LDH & CPK; Mild deformity in left ankle;Muscle biopsy showed slight myopathic atrophy with prominent internalization of nuclei and few basophilic degenerative/regenerative fibers associated with some moth-eaten fibers and secondary neurogenic changes fiber type grouping; EMG-NCV was in favor of a myopathic process mostly involving GC muscles, R/O Miyoshi type of dysferlinopathy. 1 1 Johan den Dunnen
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