All individuals with variants in gene CAPN1

17 entries on 1 page. Showing entries 1 - 17.
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00064665 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents F;M yes Morocco - - - - - SPG see paper; .., lower-extremity spasticity, lower-extremity weakness, lower-extremity hyperreflexia, extensor plantar response, abnormal bladder function, foot deformity, dysarthria, upper extremity hyperreflexia 1 3 Johan den Dunnen
00064666 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-geneation family, 8 affecteds (2F, 6M), unaffected carrier parents F;M yes Morocco - - - - - SPG see paper; ..., age onset 35/36/22/39/24y, lower-extremity spasticity (5), lower-extremity weakness (3), lower-extremity hyperreflexia (5), extensor plantar response (4), no abnormal bladder function, foot deformity (3), dysarthria (5), upper extremity hyperreflexia (5), sensory abnormalities (1), peripheral neuropathy (2), gait ataxia (1), upper extremity ataxia (1), scoliosis (1), amyotrophy (2), ocular movement abnormalities (1) 1 6 Johan den Dunnen
00064667 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-geenration family, 2 affecteds (F, M) F;M no United States idaho/Utah - - - - SPG see paper; ..., age at onset 33/19y, lower-extremity spasticity (2), lower-extremity weakness (1), lower-extremity hyperreflexia (1), extensor plantar response (1), abnormal bladder function (1), foot deformity (2), ataxia (1), ankle clonus (1), mild gait ataxia (1), upperextremity hyperreflexia (1), bilateral ankle clonus (1) 2 2 Johan den Dunnen
00245902 - - - F - - - - - - - ? HP:0001258 (Spastic paraplegia) 2 1 IMGAG
00266114 FamPatII1/2 PubMed: Tadic 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - IMD see paper; … 1 1 Johan den Dunnen
00266115 Fam1PatII1 PubMed: Kocoglu 2018 - F - Turkey - - - - - IMD lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal; keratoconus 1 1 Johan den Dunnen
00266116 Fam2PatII1 PubMed: Kocoglu 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - IMD lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal, sensory evoked potential normal 1 2 Johan den Dunnen
00266117 Fam2PatII2 PubMed: Kocoglu 2018 - F yes Turkey - - - - - IMD lower limb spaticity, no upper limb spaticity, gait ataxia, limb ataxia, dysarthria 1 1 Johan den Dunnen
00266118 FamPatII4 PubMed: Lambe 2018 2-generation family, 1 affected (2 stillborn F), unaffected heterozygous carrier parents/relatives F - - - - - - - IMD see paper; … 1 1 Johan den Dunnen
00266119 FamPat PubMed: Travaglini 2017 - M no Italy - - - - - IMD see paper; … 3 1 Johan den Dunnen
00266121 FamR PubMed: Wang 2016 3-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Bangladesh - - - - - SPG see paper; ..., late teens gait ataxia, spasticity, dysphagia; 1 2 Johan den Dunnen
00266122 (SAL-584-005 PubMed: Wang 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - S. Georgia and S. Sandwich Isls. - - - - - SPG see paper; ... 1 1 Johan den Dunnen
00266123 FamTun66273/Tun66275 PubMed: Wang 2016 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - Tunisia - - - - - SPG see paper; ... 1 2 Johan den Dunnen
00266124 Pat PubMed: Wang 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France;Spain - - - - - SPG see paper; ... 2 1 Johan den Dunnen
00266149 case1 PubMed: Shetty 2018 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Japan - - - - - IMD see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal 1 1 Johan den Dunnen
00266150 FamPat2/3 PubMed: Shetty 2018 4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M yes Turkey - - - - - IMD see paper; …, spastic paraparesis, MRI dorsal spinecord atrophy, MRI brain normal 1 1 Johan den Dunnen
00266151 case4 PubMed: Shetty 2018 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes India Punjabi - - - - IMD see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal 1 1 Johan den Dunnen
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