Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.
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Summary
The phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication (CMT1A) is revised, focusing on four phenotypic hallmarks: "classic" phenotype, as currently observed in proband patients, evolution of mild phenotype of secondary cases in infancy and early childhood, and minimal adult phenotype.
- Type
- review
- Published
- 2009-01-01
- Cited by
- 5
- References
- 28
- OpenAlex
- https://openalex.org/W29071608
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:7669367
Keywords
Gene duplication, Phenotype, Clinical phenotype, Tooth disease, Genetics
References
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- CMT1A duplication: refining the minimal adult phenotype
- Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with charcot-marie-tooth disease 1A duplication.
- Pathogenesis of pes cavus in Charcot-Marie-Tooth disease.
- The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I
- Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
- Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot‐Marie‐Tooth disease type 1)
- Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.
- Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.
- Initial semeiology in children with Charcot–Marie–Tooth disease 1A duplication
- Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.
- The clinical features of hereditary motor and sensory neuropathy types I and II.
- Neuropathy progression in Charcot-Marie-Tooth disease type 1A
- Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype
- Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1
- Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood
- Autosomal recessive forms of hereditary motor and sensory neuropathy.
- Reliability and validity of the CMT neuropathy score as a measure of disability
- Penetrance of the hereditary motor and sensory neuropathy la mutation
Cited by
- Modeling protein misfolding in charcot-marie-tooth disease.
- Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A)
- Neural and Molecular Features on Charcot-Marie-Tooth Disease Plasticity and Therapy
- Le conseil génétique dans les maladies neuromusculaires de l'enfant Genetic counselling for neuromuscular diseases beginning in childhood
- Purification of Functional Human TRP Channels Recombinantly Produced in Yeast
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