Autosomal recessive peripheral neuropathy (PNRIID)
Definition:
Autosomal recessive peripheral neuropathy with or without impaired intellectual development (PNRIID) is characterized by sensorymotor polyneuropathy and distal muscle weakness. It could be associated with mild intellectual disability, strabismus, and ophthalmoparesis. It has been reported that PNRIID is caused by mutations in the MCM3AP, encoding the germinal center associated nuclear protein (GANP).
References:
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[1]. Emil Ylikallio, et al. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain. 2017 Aug 1;140(8):2093-2103. [Content Brief]
[2]. Mert Karakaya, et al. Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. Brain. 2017 Oct 1;140(10):e65. [Content Brief]
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