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
Effects of orthopedic footwear on postural stability and walking in individuals with Hereditary Motor Sensory Neuropathy.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical biomechanics"
DOI: 10.1016/j.clinbiomech.2022.105638
Abstract: BACKGROUND Orthopedic footwear is often prescribed to improve postural stability during standing and walking in individuals with Hereditary Motor Sensory Neuropathy. However, supporting evidence in literature is scarce. The aim of this study was to… read more here.
Keywords: individuals hereditary; orthopedic footwear; sensory neuropathy; motor sensory ... See more keywords
Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy
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DOI: 10.1055/s-0037-1603778
Abstract: Objective This study aims to compare mechanography, measuring force in jumping, and rising, with the 6‐minute walk test (6MWT) and time function tests in pediatric patients with hereditary motor and sensory neuropathies. Methods A cohort… read more here.
Keywords: mechanography; hereditary motor; motor sensory; motor ... See more keywords
Hereditary motor and sensory neuropathy with SOD1-mutant: A case report
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DOI: 10.1097/md.0000000000031378
Abstract: Rationale: Hereditary motor-sensory peripheral neuropathy, or Charot-Marie-Tooth (CMT) Charcot-Marie-Tooth disease is an inherited peripheral neuropathy characterized by progressive limb weakness and muscle atrophy. As the disease progresses, sensory and autonomic involvement may occur. We report… read more here.
Keywords: hereditary motor; disease; report; case ... 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
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
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DOI: 10.1212/nxg.0000000000200048
Abstract: Background and Objectives Coenzyme Q10 (CoQ10) is an important electron carrier and antioxidant. The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ10), the second-to-last step in the CoQ10 biosynthesis pathway. We report a consanguineous family… read more here.
Keywords: coq7; hereditary motor; homozygous variant; motor ... See more keywords