All individuals with variants in gene LRSAM1

12 entries on 1 page. Showing entries 1 - 12.
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00080827 - Trujillano et al., submitted unaffected heterozygous carrier mother, father not available - - - - - 0 - - CMT-2P Charcot-Marie-Tooth disease, axonal, type 2P (OMIM:614436) 1 1 Daniel Trujillano
00210165 - - - M - Germany - - 0 - - - HP:0002460 (Distal muscle weakness); HP:0003198 (Myopathy) 1 1 Andreas Laner
00218353 20865121-Fam PubMed: Guernsey 2010 6-generation family, 7 affected (F, 6m), unaffected heterozygous carrier parents/relatives F;M yes Canada Canadian, rural eastern - 0 - - CMT see paper; similar to autosomal recessive axonal CMT 1 7 Johan den Dunnen
00218354 22012984-Fam PubMed: Weterman 2012, PubMed: Aerts 2015 3-generation family, 11 affected (5F, 6M) heterozygous carriers F;M no Netherlands - - 0 - - CMT see paper; phenotype includes late-onset Parkinson’s disease, ... 1 11 Johan den Dunnen
00218356 22781092 PubMed: Nicolaou 2013 6-generation family, 22 affected heterozygous carriers (10F, 12M) F;M - Italy Sardian - 0 - - CMT see paper; ... 1 22 Johan den Dunnen
00218357 27686364-Fam PubMed: Peeters 2016 2-generation family, 13 affected heterozygous carriers (6F, 7M) F;M no Spain - - 0 - - CMT see paper; mild and quiescent lower-limb axonal sensorimotor neuropathy; MRI lower-limb musculature shows fatty atrophy, ... 1 13 Johan den Dunnen
00218361 29341362-Fam PubMed: Zhao 2018 4-generation family, 6 affected heterozygous carriers (F, 5M) F;M no China - - 0 - - CMT see paper; difficulty walking, slowly progressive weakness lower limbs, atrophy distal parts lower limbs (III1), tendon reflexes depressed or absent, with mild stocking sensory loss to pricking pain or vibration feet, talipes cavus deformity (II4), no clawhand deformity, numbness and tingling in feet, no cranial nerve involvement, no cerebellar or pyramidal signs, ... 1 6 Johan den Dunnen
00218376 27615052_Fam PubMed: Hu 2016 4-generation family, 8 affected heterozygous carriers (4F, 4M) F;M no United States - - 0 - - CMT see paper; ... 1 8 Johan den Dunnen
00218377 24894446-Fam PubMed: Engeholm 2014 4-generation family, 3 affected heterozygous carriers (2F, M) F;M no Germany - - 0 - - CMT see paper; axonal CMT, ... 1 3 Johan den Dunnen
00219001 28902413-Pat11 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT2P 1 1 Johan den Dunnen
00240384 - - - F - - - - 0 - - ? Cerebellar atrophy (HP:0001272); Polyneuropathy (HP:0001271); Sensory ataxia (HP:0010871) 2 1 IMGAG
00295655 - - - F - - - - 0 - - ? Peripheral axonal neuropathy (HP:0003477); Pes cavus (HP:0001761) 1 1 Andreas Laner
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