TYPE V HEREDITARY MOTOR AND SENSORY NEUROPATHY
\tˈa͡ɪp vˈiː hɪɹˈɛdɪtəɹi mˈə͡ʊtə and sˈɛnsəɹˌi njuːɹˈɒpəθɪ], \tˈaɪp vˈiː hɪɹˈɛdɪtəɹi mˈəʊtə and sˈɛnsəɹˌi njuːɹˈɒpəθɪ], \t_ˈaɪ_p v_ˈiː h_ɪ_ɹ_ˈɛ_d_ɪ_t_ə_ɹ_i m_ˈəʊ_t_ə__ a_n_d s_ˈɛ_n_s_ə_ɹ_ˌi n_j_uː_ɹ_ˈɒ_p_ə_θ_ɪ]\
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A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progessive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64 (1):61-6; Curr Opin Neurol 1997 Aug;10 (4):313-8)
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.
Nearby Words
- type of constans
- type species
- type specimen
- type v collagen
- type v familial amyloid polyneuropathy
- Type V Hereditary Motor and Sensory Neuropathy
- type v procollagen
- type vi (intima) collagen
- type vi collagen
- type vi familial amyloid polyneuropathy
- type vi procollagen