All individuals with variants in gene POMK

11 entries on 1 page. Showing entries 1 - 11.
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VIP     
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00016342 - PubMed: von Renesse 2-generation family, 2 affecteds (sister/brother) - yes Lebanon - - - - - MDC see paper 1 2 Johan den Dunnen
00016343 - PubMed: Jae 2013 2-generation family, 1 affected, unaffected carrier parents ? no - - - - - - WWS typical WWS 2 3 Johan den Dunnen
00016346 - PubMed: Jae 2013 2-generation family, unaffected carrier parent ? no - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00016347 - PubMed: Jae 2013 2-generation family, unaffected carrier parent ? no - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00081036 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MDDGA12 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (OMIM:615249) 1 1 Daniel Trujillano
00144402 - PubMed: Strang-Karlsson 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no Finland white - - yes no ? proximal upper and proximal and distal lower limb weakness. Distal lower limb hypertrophy; mild LGMD phenotype, onset in chidhood 2 2 Sonja Strang-Karlsson
00144403 - PubMed: Strang-Karlsson 2018 sister to #0000145262 F no Finland white - - - no ? - 2 1 Sonja Strang-Karlsson
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 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 2 1 Johan den Dunnen
00314396 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
00314397 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
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