The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
✍ Scribed by Cuesta, Ana; Pedrola, Laia; Sevilla, Teresa; García-Planells, Javier; Chumillas, María José; Mayordomo, Fernando; LeGuern, Eric; Marín, Ignacio; Vílchez, Juan J.; Palau, Francesc
- Book ID
- 109919697
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 727 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/ng798
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Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral
Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a