Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy
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DOI: 10.1002/acn3.51543
Abstract: Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of diseases characterized by exclusive degeneration of peripheral motor nerves, while only 20.0–47.8% of dHMN patients are genetically identified. Recently, GGC expansion in the 5’UTR of… read more here.
Keywords: genetic spectrum; hereditary motor; distal hereditary; motor ... See more keywords
A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.701
Abstract: Vaccinia‐related kinase 1 (VRK1) mutations can cause motor phenotypes including axonal sensorimotor neuropathy, distal hereditary motor neuropathy (dHMN), spinal muscular atrophy, and amyotrophic lateral sclerosis. Here, we identify a novel homozygous VRK1 p.W375X mutation causing… read more here.
Keywords: distal hereditary; hereditary motor; motor; vrk1 ... See more keywords
Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy
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DOI: 10.1093/brain/awac424
Abstract: Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and 4 disease loci implicated in… read more here.
Keywords: distal hereditary; gene intergenic; motor; intergenic fusion ... See more keywords
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13563
Abstract: Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting and weakness with no or minimal sensory abnormalities. To investigate the clinical and genetic… read more here.
Keywords: distal hereditary; hereditary motor; genetics; family ... See more keywords
Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Neurology"
DOI: 10.1111/ene.14700
Abstract: Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component of peripheral nerves. Currently, only 15% to 32.5% of patients with dHMN are characterized genetically. Additionally, the… read more here.
Keywords: motor neuropathies; distal hereditary; hereditary motor; neuropathies mutation ... See more keywords
Broadening the genetic spectrum of distal hereditary motor neuropathy
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Neurology"
DOI: 10.1111/ene.14734
Abstract: In this issue of the Journal, Frasquet et al. report on the genetic spectrum of a large cohort of patients with distal hereditary motor neuropathy (dHMN) from two large centres in Spain1 . All patients… read more here.
Keywords: motor neuropathy; distal hereditary; hereditary motor; genetic spectrum ... See more keywords
Distal hereditary neuropathy associated with a novel mutation in alanyl-aminoacyl-tRNA synthetase.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical neuropathology"
DOI: 10.5414/np301489
Abstract: To report a new genetic cause of distal hereditary motor neuropathy (dHMN), which is likely associated with worsening during pregnancy. We collected the clinical data of a patient with severe weakness of the lower limbs… read more here.
Keywords: lower extremity; distal hereditary; weakness; right lower ... See more keywords