Disease #05117 (MDDG (dystrophy, muscular, dystroglycanopathy (MDDG)))

Official abbreviation MDDG
Name dystrophy, muscular, dystroglycanopathy (MDDG)
OMIM ID -
Inheritance -
Individuals reported having this disease 172
Phenotype entries for this disease 172
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2016-01-11 01:55:59 +01:00 (CET)
Date last edited N/A


Individuals

172 entries on 2 pages. Showing entries 1 - 100.
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00265779 Pat Vissing WMS2019, absO14 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Pakistan - - - - - MDDG 8y-frequent falls, involuntary movements, spastic limb paresis; 13y-lost ambulation; 25y-deteriorating speech; 32y-loss of speech, loss cognitive skills, ... B3GNT4 B3GNT4 1 1 Johan den Dunnen
00311099 Pat1 PubMed: Johnson 2018 - F - - white - - - - MDDG onset middle age, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, distal lower limb, axial; proximal lower limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 4310 U/L; muscle biopsy myopathic, dystrophic; involvement of gluteus maximus, adductor magnus, obturatorius externeus, hamstring, adductor, rectus femoris, tibialis anterior and gastrocnemius externus muscles; EMG myopathic DPM3 DPM3 1 1 Johan den Dunnen
00311100 Pat2 PubMed: Johnson 2018 - M - - white - - - - MDDG onset juvenile, slowly progressive; walks independent; left ventricular ejection fraction 50%; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.73; muscle weakness proximal upper limb and lower limb; proximal upper limb and scapular muscle atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 673 U/L; muscle biopsy myopathic; EMG myopathic FKRP FKRP 1 1 Johan den Dunnen
00311101 Pat3 PubMed: Johnson 2018 - M - Afghanistan - - - - - MDDG onset young adult, progressive; walks independent; left ventricular ejection fraction 50%; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.65; muscle weakness proximal upper limb and lower limb; no contractures; mild scapular winging; no scoliosis; serum creatine kinase 325 U/L; muscle biopsy dystrophic; EMG myopathic FKRP FKRP 1 1 Johan den Dunnen
00311102 Pat4 PubMed: Johnson 2018 - F - - white - - - - MDDG onset juvenile, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.73; muscle weakness proximal upper limb and lower limb, anterior tibial, axial; proximal lower limb atrophy; contractures lower limb; scapular winging; no scoliosis; serum creatine kinase 451 U/L; muscle biopsy dystrophic; involvement of paraspinal, glutei, quadriceps and hamstring muscles; EMG myopathic FKRP FKRP 1 1 Johan den Dunnen
00311103 Pat5 PubMed: Johnson 2018 - M - - white - - - - MDDG onset juvenile, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.65; muscle weakness proximal lower limb; distal upper limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 1850 U/L; muscle biopsy myopathic; EMG myopathic FKRP FKRP 1 1 Johan den Dunnen
00311104 Pat6 PubMed: Johnson 2018 - F - - white - - - - MDDG onset juvenile, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb (lower limb more prominent), mild neck; mild pseudohypertrophy of gastrocnemius, mild atrophy of biceps brachii and vastus lateralis; no contractures; no scapular winging; no scoliosis; serum creatine kinase 4109 U/L; muscle biopsy dystrophic, internal nuclei; sartorius, gracilis and semitendinosus relatively preserved. involvement of other thigh muscles; EMG myopathic FKRP FKRP 1 1 Johan den Dunnen
00311105 Pat7 PubMed: Johnson 2018 - F - - white - - - - MDDG onset juvenile, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb (lower limb more prominent), mild neck; mild pseudohypertrophy of gastrocnemius; no contractures; no scapular winging; no scoliosis; serum creatine kinase 5619 U/L; muscle biopsy myopathic, dystrophic; EMG myopathic FKRP FKRP 1 1 Johan den Dunnen
00311106 Pat8 PubMed: Johnson 2018 - F - - white - - - - MDDG onset childhood, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb; proximal upper limb, neck and scapular muscle atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 390 U/L; muscle biopsy glycogen accumulation, abnormal mitochondria; involvement of hamstring muscles; EMG myopathic FKRP FKRP 1 1 Johan den Dunnen
00311107 Pat9 PubMed: Johnson 2018 - F - - white - - - - MDDG onset childhood, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.81; muscle weakness p roximal and distal upper limb and lower limb; proximal and distal upper limb atrophy,distal lower limb atrophy; contractures lower limb; no scapular winging; scoliosis; serum creatine kinase 2787 U/L; muscle biopsy myopathic, dystrophic; symmetric involvement in back and abdominal muscles. involvement of gluteal, vastus medius, intermedialis and lateralis, sartorius, rectus femoris, biceps femoris, semimembranosus and semitendinosus muscles. relative sparing of m.soleus and adductor longus. involvement of peroneus longus muscles, with relative sparing of tibialis anterior; EMG myopathic, dystrophic FKRP FKRP 2 1 Johan den Dunnen
00311108 Pat10 PubMed: Johnson 2018 - F - - white - - - - MDDG onset infantile, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.71; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb, paraspinal and scapular muscle atrophy; contractures lower limb and proximal upper limb, spinal rigidity; scapular winging; no scoliosis; serum creatine kinase 3850 U/L; muscle biopsy myopathic, dystrophic; involvement of thigh, piriformis and gluteus maximus muscles, slight involvement of vastus lateralis and rectus femoris. involvement of triceps suralis and biceps and biceps brachailis; EMG myopathic FKTN FKTN 2 1 Johan den Dunnen
00311109 Pat11 PubMed: Johnson 2018 - F - - white - - - - MDDG onset juvenile, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.66; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb and scapular muscle atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 1520 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; GMPPB GMPPB 2 1 Johan den Dunnen
00311110 Pat12 PubMed: Johnson 2018 - M - - white - - - - MDDG onset childhood, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.59; muscle weakness p roximal upper limb and lower limb; proximal upper limb and scapular muscle atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2390 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; EMG myopathic GMPPB GMPPB 2 1 Johan den Dunnen
00311111 Pat13 PubMed: Johnson 2018 - M - - white - - - - MDDG onset childhood, slowly progressive; wheelchair bound; previous ventricular septal defects; slight insufficiency of mitral and tricuspid valves; myopia; no brain abnormalities; no intellectual disability; muscle weakness proximal and distal upper limb and lower limb; athletic and muscular build, distal lower limb hypertrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2336 U/L; muscle biopsy myopathic; involvement of dorsalis muscles, gluteus medius and minimus, and iliopsoas muscle with relative sparing of semitendinosus muscle. moderate involvement of adductor magnus muscles. slight involvement of gastrocnemius muscles with its hypertrophy without significant edema; EMG myopathic, positive repetitive nerve stimulation of quadriceps muscle GMPPB GMPPB 2 1 Johan den Dunnen
00311112 Pat14 PubMed: Johnson 2018 - F - - Arab - - - - MDDG onset young adult, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; few white matter lesions; no intellectual disability; forced vital capacity 0.34; muscle weakness proximal upper limb and lower limb; proximal upper limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 3500 U/L; muscle biopsy myopathic; EMG myopathic ISPD ISPD 2 1 Johan den Dunnen
00311113 Pat15 PubMed: Johnson 2018 - M - - white - - - - MDDG onset childhood, non-progressive; walks independent; left ventricular enlargement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 2,553-6,800 U/L; muscle biopsy myopathic; minimal high-signal changes in the right shoulder and left pelvic and thigh regions; EMG normal POMK POMK 2 1 Johan den Dunnen
00311114 Pat16 PubMed: Johnson 2018 - F - - white - - - - MDDG onset childhood, non-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal and distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 890-4,687 U/L; muscle biopsy normal; EMG normal POMK POMK 2 1 Johan den Dunnen
00311115 Pat17 PubMed: Johnson 2018 - M - - white - - - - MDDG onset infantile, non-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal upper limb and lower limb; no contractures; no scapular winging; no scoliosis; serum creatine kinase 586-1,012 U/L; muscle biopsy dystrophic; EMG myopathic POMT1 POMT1 2 1 Johan den Dunnen
00311116 Pat6;Pat18 PubMed: Ostergaard 2018, PubMed: Johnson 2018 - M - Azerbaijan white - - - - MDDG onset infantile, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.76; muscle weakness p roximal upper limb and lower limb, axial; proximal upper limb and proximal lower limb and scapular muscle atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 2761 U/L; muscle biopsy dystrophic; involvement in lower limbs; EMG myopathic POMT2 POMT2 2 1 Johan den Dunnen
00311117 Pat19 PubMed: Johnson 2018 - F - - white - - - - MDDG onset childhood, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity 0.72; muscle weakness p roximal upper limb and lower limb, distal lower limb, facial; distal lower limb hypertrophy, facial atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 7646 U/L; muscle biopsy myopathic; preferential involvement of paraspinal, posterior thigh and medial gastrocnemius muscles; hypertrophic appearance of lower leg muscles; EMG myopathic POMT2 POMT2 2 1 Johan den Dunnen
00311118 Pat20 PubMed: Johnson 2018 - M - - white - - - - MDDG onset childhood, slowly progressive; walks independent; no eye anomalies; no brain abnormalities; mild mental retardation; muscle weakness p roximal upper limb and lower limb, distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 5086 U/L; muscle biopsy myopathic, dystrophic; preferential involvement of paraspinal, posterior thigh and medial gastrocnemius muscles; relative sparing and hypertrophic appearance of lower leg muscles; POMT2 POMT2 2 1 Johan den Dunnen
00311119 Pat5;Pat21 PubMed: Ostergaard 2018, PubMed: Johnson 2018 - M - Denmark white - - - - MDDG onset infantile, slowly progressive; wheelchair bound; left ventricular ejection fraction 50%; no eye anomalies; left frontal cortical atrophy; cognitive impairment; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb atrophy; contractures lower limb and proximal upper limb, spinal rigidity; no scapular winging; scoliosis; serum creatine kinase 585 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; POMT2 POMT2 2 1 Johan den Dunnen
00311120 Pat1;Pat22 PubMed: Ostergaard 2018, PubMed: Johnson 2018 2-generation family, 2 affected siblings F - Denmark Arab - - - - MDDG onset childhood, progressive; walks independent; no cardiac involvement; no eye anomalies; central and cortical atrophy; cognitive impairment; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb and scapular muscle atrophy; spinal rigidity; scapular winging; no scoliosis; serum creatine kinase 1590 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; POMT2 POMT2 1 2 Johan den Dunnen
00311121 Pat23 PubMed: Johnson 2018 - M - - white - - - - MDDG onset foetal, progressive; wheelchair bound; left ventricular fractional shortening 25%; no eye anomalies; microcephaly; mild mental retardation; forced vital capacity 0.62; muscle weakness proximal upper limb and lower limb, distal lower limb, axial; proximal upper limb, neck and scapular muscle atrophy; contractures lower limb; no scapular winging; scoliosis; serum creatine kinase 765 U/L; muscle biopsy dystrophic; EMG normal POMT2 POMT2 2 1 Johan den Dunnen
00311122 Pat7;Pat24 PubMed: Ostergaard 2018, PubMed: Johnson 2018 - F - Spain white - - - - MDDG onset congenital, progressive; walks independent; dilated cardiomyopathy; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb, neck, paraspinal and scapular muscle atrophy; spinal rigidity; no scapular winging; no scoliosis; serum creatine kinase 1,980-18,900 U/L; muscle biopsy myopathic, dystrophic; muscle imaging normal; EMG myopathic POMT2 POMT2 2 1 Johan den Dunnen
00311123 Pat8;Pat25 PubMed: Ostergaard 2018, PubMed: Johnson 2018 - F - Spain white - - - - MDDG onset congenital, slowly-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal and distal upper limb and lower limb; no contractures; no scapular winging; no scoliosis; serum creatine kinase 3,307-7,975 U/L; muscle biopsy dystrophic; muscle imaging normal; EMG myopathic POMT2 POMT2 2 1 Johan den Dunnen
00311124 Pat26 PubMed: Johnson 2018 - F - Spain - - - - - MDDG onset middle age, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity 0.83; muscle weakness proximal and distal lower limb; proximal upper limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2615 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, glutei, adductor, rectus femoris, semimembranosus, long head of biceps femoris and soleus muscles. moderate involvement of gastrocnemius and milder involvement of semitendinosus muscles; EMG myopathic POMT2 POMT2 2 1 Johan den Dunnen
00311125 Pat12;Pat27 PubMed: Ostergaard 2018, PubMed: Johnson 2018 - F - Iraq Persian - - - - MDDG onset young adult, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.56; muscle weakness proximal upper limb and lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 3120 U/L; muscle biopsy dystrophic; severe involvement of hip adductors, hamstring muscles and rectus femoris; EMG myopathic POMT2 POMT2 2 1 Johan den Dunnen
00390484 Pat1 PubMed: Song 2021 - F - China - - - - - MDDG congenital muscular dystrophy, no mental retardation; 1y2m-sit; contractures knee; no intellectual disability; no seizures; no eye involvement; CK level 2104-4337 IU/L; MRI brain normal; EMG myogenic; IHC no DAG; ECG sinus arrhythmia - FKRP 2 1 Johan den Dunnen
00390485 Pat2 PubMed: Song 2021 - F - China - - - - - MDDG congenital muscular dystrophy, mental retardation; 2y-walk; contractures knee; intellectual disability; seizures; no eye involvement; CK level 5270 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia - FKRP 2 1 Johan den Dunnen
00390486 Pat3 PubMed: Song 2021 - M - China - - - - - MDDG congenital muscular dystrophy, no mental retardation; 1y-sit; contractures ankle; no intellectual disability; no seizures; no eye involvement; CK level 4706-7761 IU/L; MRI brain normal; EMG myogenic; IHC no DAG; UCG normal - FKRP 2 1 Johan den Dunnen
00390487 Pat4 PubMed: Song 2021 - F - China - - - - - MDDG congenital muscular dystrophy, mental retardation; 1y-sit; contracture elbow, knee; intellectual disability; no seizures; no eye involvement; CK level 8080-9425 IU/L; MRI brain normal; EMG myogenic; EGC normal; UCG normal - FKRP 2 1 Johan den Dunnen
00390488 Pat5 PubMed: Song 2021 - M - China - - - - - MDDG deceased; congenital muscular dystrophy, mental retardation; 1y6m-sit; no contractures; intellectual disability; no seizures; no eye involvement; CK level 9310 IU/L; MRI brain nonspecific white matter changes; EMG myogenic; IHC no DAG; UCG normal - FKRP 2 1 Johan den Dunnen
00390489 Pat6 PubMed: Song 2021 - F - China - - - - - MDDG congenital muscular dystrophy, no mental retardation; 1y10m-walk, 3y1m-run; no contractures; no intellectual disability; no seizures; no eye involvement; CK level 15245 IU/L; MRI brain normal; muscle biopsy muscular dystrophy - FKRP 2 1 Johan den Dunnen
00390490 Pat7 PubMed: Song 2021 - M - China - - - - - MDDG congenital muscular dystrophy, no mental retardation; 1y5m-sit; no contractures; no intellectual disability; no seizures; esotropia; CK level 2850 IU/L; MRI brain cerebellar abnormalities with or without brainstem hypoplasia; ECG right bundle branch block - FKRP 2 1 Johan den Dunnen
00390491 Pat8 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y3m-walk, run, 13y-cannot run, 23y-walking supported; contractures ankle; no intellectual disability; seizures; CK level 3585-5531 IU/L; ECG-right bundle branch block; UCG-normal - FKRP 2 1 Johan den Dunnen
00390492 Pat9 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y6m-walk, 2-3y-run, 10y-cannot run; contractures ankle; no intellectual disability; no seizures; CK level 12017 IU/L; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390493 Pat10 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y-walk, difficulty run and jump; no contractures; no intellectual disability; seizures; CK level 1200-7212 IU/L; EMG myogenic; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390494 Pat11 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 10m-walk, 1y6m-run; no contractures; no intellectual disability; no seizures; CK level 894-2503 IU/L; EMG myogenic; ECG-normal; UCG-normal - FKRP 1 1 Johan den Dunnen
00390495 Pat12 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; normal motor ability; no contractures; no intellectual disability; no seizures; CK level 10213 IU/L - FKRP 1 1 Johan den Dunnen
00390496 Pat13 PubMed: Song 2021 - F - China - - - - - MDDG limb-girdle muscular dystrophy; normal milestones, 25y-walking supported; contractures ankle; no intellectual disability; no seizures; CK level 1799 IU/L; EMG myogenic; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390497 Pat14 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y6m-walk and run; no contractures; no intellectual disability; no seizures; CK level 3080-6203 IU/L; MRI brain nonspecific white matter changes; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390498 Pat15 PubMed: Song 2021 - F - China - - - - - MDDG limb-girdle muscular dystrophy; 1y-walk, 1y6m-run; no contractures; no intellectual disability; no seizures; CK level 1375-7992 IU/L; ECG-sinus arrhythmia; UCG mitral and tricuspid regurgitation (mild) - FKRP 2 1 Johan den Dunnen
00390499 Pat16 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy, mental retardation; 1y6m-walk; no contractures; intellectual disability; no seizures; CK level 1935-2287 IU/L; EMG myogenic; UCG-normal - FKRP 2 1 Johan den Dunnen
00390500 Pat17 PubMed: Song 2021 - F - China - - - - - MDDG limb-girdle muscular dystrophy; 6m-sit, 2y-walk, run; no contractures; autistic syndrome; no seizures; CK level 7027-11681 IU/L; ECG-normal; UCG-normal - FKRP 1 1 Johan den Dunnen
00390501 Pat18 PubMed: Song 2021 - F - China - - - - - MDDG limb-girdle muscular dystrophy; 1y4m-walk; no contractures; no intellectual disability; no seizures; CK level 1940-32000 IU/L; MRI brain enlargement subarachnoid space; EMG-myogenic, neurogenic; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390502 Pat19 PubMed: Song 2021 - F - China - - - - - MDDG limb-girdle muscular dystrophy; 1y-walk, run; no contractures; no intellectual disability; no seizures; CK level 901-2671 IU/L; EMG-normal; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390503 Pat20 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y4m-walk, 3y-run; no contractures; no intellectual disability; no seizures; CK level 2919 IU/L; EMG myogenic; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390504 Pat21 PubMed: Song 2021 - F - China - - - - - MDDG limb-girdle muscular dystrophy; 11m-walk, run, 10y-cannot walk; contractures ankle, knee; no intellectual disability; no seizures; CK level 1385-8837 IU/L; EMG myogenic; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390505 Pat22 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y1m-walk, 6y-no walking; contractures ankle; no intellectual disability; no seizures; CK level 5904-13890 IU/L; EMG myogenic; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390506 Pat23 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y4m-walk, 2y-run; no contractures; no intellectual disability; no seizures; CK level 1833-13862 IU/L; MRI brain normal; EMG-normal; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390507 Pat24 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y2m-walk; no contractures; no intellectual disability; no seizures; CK level 1047-14210 IU/L; EMG myogenic; ECG-normal - FKRP 2 1 Johan den Dunnen
00390508 Pat25 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y1m-walk, 2y-run; lordosis; no intellectual disability; seizures; CK level 7000-20000 IU/L; MRI brain normal; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390509 Pat26 PubMed: Song 2021 - M - China - - - - - MDDG limb-girdle muscular dystrophy; 1y-walk, 1y6m-run, 8y-cannot run; scoliosis; no intellectual disability; no seizures; CK level 17398 IU/L; EMG myogenic; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal - FKRP 2 1 Johan den Dunnen
00390510 Pat27 PubMed: Song 2021 - F - China - - - - - MDDG limb-girdle muscular dystrophy; normal motor ability; contractures ankle; no intellectual disability; no seizures; CK level 1451 IU/L; MRI brain normal; EMG myogenic; UCG aortic and tricuspid regurgitation (mild) - FKRP 2 1 Johan den Dunnen
00390511 Pat28 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390512 Pat29 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 1 1 Johan den Dunnen
00390513 Pat30 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390514 Pat31 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 1 1 Johan den Dunnen
00390515 Pat32 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 1 1 Johan den Dunnen
00390516 Pat33 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390517 Pat34 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390518 Pat35 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390519 Pat36 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 1 1 Johan den Dunnen
00390520 Pat37 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390521 Pat38 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390522 Pat39 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390523 Pat40 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390524 Pat41 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390525 Pat42 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390526 Pat43 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390527 Pat44 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390528 Pat45 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390529 Pat46 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390530 Pat47 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390531 Pat48 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390532 Pat49 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390533 Pat50 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 1 1 Johan den Dunnen
00390534 Pat51 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 1 1 Johan den Dunnen
00390535 Pat52 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390536 Pat53 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390537 Pat54 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 1 1 Johan den Dunnen
00390538 Pat55 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390539 Pat56 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 1 1 Johan den Dunnen
00390540 Pat57 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390541 Pat58 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390542 Pat59 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390543 Pat60 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390544 Pat61 PubMed: Song 2021 - M - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390545 Pat62 PubMed: Song 2021 - F - China - - - - - MDDG - - FKRP 2 1 Johan den Dunnen
00390546 Pat63 PubMed: Song 2021 - M - China - - - - - MDDG deceased; muscle-eye-brain disease; 8m-lift head; contractures elbow, knee; intellectual disability; no seizures; Optic nerve atrophy, retinal atrophy, macular dysplasia; VEP ab waves disappear in both eyes; CK level 1022-3893 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal - POMGNT1 2 1 Johan den Dunnen
00390547 Pat64 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 5y-turn over; contractures ankle, knee; intellectual disability; no seizures; Microphthalmia, microcornea, right cataract, left severe myopia, left optic nerve atrophy, and left retinal dysplasia; CK level 1514 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia, eptum pellucidum - POMGNT1 1 1 Johan den Dunnen
00390548 Pat65 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 6y2m-walk; contractures ankle; intellectual disability; no seizures; esotropia, optic nerve atrophy; CK level 345-1113 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal - POMGNT1 2 1 Johan den Dunnen
00390549 Pat66 PubMed: Song 2021 - F - China - - - - - MDDG muscle-eye-brain disease; 5y-walk; no contractures; intellectual disability; seizures; Optic nerve atrophy; CK level 867 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal - POMGNT1 2 1 Johan den Dunnen
00390550 Pat67 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 3y6m-walk supported; no contractures; intellectual disability; no seizures; Optic nerve atrophy, retinal atrophy, macular dysplasia; CK level 569 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal - POMGNT1 2 1 Johan den Dunnen
00390551 Pat68 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 3y6m-sit; contractures ankle; intellectual disability; seizures; Nystagmus, VEP amplitude decreased with prolonged latency; CK level 5190 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal - POMGNT1 2 1 Johan den Dunnen
00390552 Pat69 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 1y6m-walk; no contractures; intellectual disability; seizures; esotropia, myopia, nystagmus; CK level 948-1973 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia - POMGNT1 2 1 Johan den Dunnen
00390553 Pat70 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 3y-walk and run; contractures ankle; intellectual disability; no seizures; macular dysplasia; CK level 1542 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; UGC tricuspid regurgitation - POMGNT1 2 1 Johan den Dunnen
00390554 Pat71 PubMed: Song 2021 - F - China - - - - - MDDG muscle-eye-brain disease; 1y6m-sit; contractures ankle, knee; intellectual disability; no seizures; esotropia; CK level 2375-6333 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia, hydrocephalus; EMG myogenic; IHC reduced DAG; EGC normal; UCG normal - POMGNT1 2 1 Johan den Dunnen
00390555 Pat72 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 2y1m-walk, 3y6m-run; contractures knee; intellectual disability; seizures; esotropia; CK level 1317-2888 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal - POMGNT1 3 1 Johan den Dunnen
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