All individuals with variants in gene LRSAM1

36 entries on 1 page. Showing entries 1 - 36.
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00080827 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother, father not available - - - - - - - - CMT2P Charcot-Marie-Tooth disease, axonal, type 2P (OMIM:614436) 1 1 Daniel Trujillano
00210165 - - - M - Germany - - - - - - 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 - - - - 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 - - - - - 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 - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - CMT see paper; axonal CMT, ... 1 3 Johan den Dunnen
00219001 28902413-Pat11 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - CMT CMT2P 1 1 Johan den Dunnen
00240384 - - - F - - - - - - - ? Cerebellar atrophy (HP:0001272); Polyneuropathy (HP:0001271); Sensory ataxia (HP:0010871) 2 1 IMGAG
00295655 - - - F - - - - - - - ? Peripheral axonal neuropathy (HP:0003477); Pes cavus (HP:0001761) 1 1 Andreas Laner
00306993 - - - M - - - - - - - ? Multifocal epileptiform discharges (HP:0010841); Abnormality of muscle physiology (HP:0011804); Seizures (HP:0001250); Muscular hypotonia (HP:0001252); Spasticity (HP:0001257); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Neurodevelopmental abnormality (HP:0012759); Hypertonia (HP:0001276); Dystonia (HP:0001332); Generalized myoclonic seizures (HP:0002123); EEG abnormality (HP:0002353); Abnormality of the musculature (HP:0003011); Muscular dystrophy (HP:0003560); Hearing impairment (HP:0000365); Abnormal muscle tone (HP:0003808) 1 1 Andreas Laner
00306995 - - - M - - - - - - - ? Bilateral ptosis (HP:0001488); Myopathy (HP:0003198) 1 1 Andreas Laner
00306996 - - - M - - - - - - - ? Paraplegia/paraparesis (HP:0010551); Skeletal muscle atrophy (HP:0003202) 1 1 Andreas Laner
00306997 - - - M - - - - - - - ? Peripheral axonal neuropathy (HP:0003477); Limb-girdle muscle atrophy (HP:0003797); Sensorimotor neuropathy (HP:0007141) 1 1 Andreas Laner
00306998 - - - F - - - - - - - ? Renal cyst (HP:0000107); Polyneuropathy (HP:0001271); Rheumatoid arthritis (HP:0001370); Transient ischemic attack (HP:0002326); Hashimoto thyroiditis (HP:0000872); Tibialis muscle weakness (HP:0008963) 1 1 Andreas Laner
00306999 - - - F - - - - - - - ? Abnormality of nervous system morphology (HP:0012639); Sensorimotor neuropathy (HP:0007141) 2 1 Andreas Laner
00307000 - - - M - - - - - - - ? Abnormal peripheral nervous system morphology (HP:0000759); Sensory neuropathy (HP:0000763) 1 1 Andreas Laner
00307001 - - - M - - - - - - - ? Mixed demyelinating and axonal polyneuropathy (HP:0007327) 1 1 Andreas Laner
00307002 - - - M - - - - - - - ? Lower limb pain (HP:0012514); Gait disturbance (HP:0001288); Pes cavus (HP:0001761); Hand tremor (HP:0002378); Muscle stiffness (HP:0003552); Limb fasciculations (HP:0007289) 1 1 Andreas Laner
00307003 - - - M - - - - - - - ? Muscle cramps (HP:0003394); Paresthesia (HP:0003401); Peripheral axonal neuropathy (HP:0003477) 1 1 Andreas Laner
00307004 - - - M - - - - - - - ? Ataxia (HP:0001251) 1 1 Andreas Laner
00307005 - - - M - - - - - - - ? Peripheral neuropathy (HP:0009830) 1 1 Andreas Laner
00307006 - - - M - - - - - - - ? Elevated serum creatine phosphokinase (HP:0003236); Muscular dystrophy (HP:0003560) 1 1 Andreas Laner
00307007 - - - M - - - - - - - ? Vitamin B12 deficiency (HP:0100502); Vitamin D deficiency (HP:0100512); Abnormal enzyme/coenzyme activity (HP:0012379); Obesity (HP:0001513); Hypomagnesemia (HP:0002917); Depression (HP:0000716) 1 1 Andreas Laner
00307128 - - submission for publication Reilich et al, 2020 (submitted) ? ? - - - - - - CMT2P Distal limb muscle weakness due to peripheral neuropathy 1 1 Andreas Laner
00307129 105556 - submission for publication Reilich et al, 2020 (submitted) F ? - - - - - - CMT2P Weakness of foot dorsiflexion and lowering since the 30th year of life, distally emphasized sensorimotor axonal PNP. FA: Brother of the father also PNP since 70th year, father died with 29 years without symptoms of PNP, daughter also affected (known since 28th year) 1 1 Andreas Laner
00307130 - - submission for publication Reilich et al, 2020 (submitted) ? ? - - - - - - CMT2P Axonal degeneration/regeneration on nerve biops 1 1 Andreas Laner
00307131 - - submission for publication Reilich et al, 2020 (submitted) ? ? - - - - - - CMT2P Distal sensory loss, Foot drop 1 1 Andreas Laner
00307132 140851 submission for publication Reilich et al, 2020 (submitted) - M ? Germany - - - - - CMT2P Hereditary polyneuropathy, sensorimotor primary axonal PNP (sensory > motor), father also affected 1 1 Andreas Laner
00307137 - submission for publication Reilich et al, 2020 (submitted) - ? ? - - - - - - CMT2P Hereditary polyneuropathy 1 1 Andreas Laner
00327628 - - - - - - - - - - - CMT2P - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00374778 S-1738 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374779 S-661 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00420595 - - - M - Germany - - - - - HMSN - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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