MeSH Browser

MeSH Supplementary: Neuropathy ataxia and retinitis pigmentosa
Unique ID: C537396
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537396
Entry Term(s): NARP syndrome; Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa; Neuropathy, Ataxia, Retinitis Pigmentosa syndrome; Neuropathy, Ataxia, and Retinitis Pigmentosa
Registry Number: 0
Heading Mapped to: *Retinitis Pigmentosa; *Mitochondrial Myopathies
Frequency: 24
Note: A mitochondrial myopathy characterized by sensory neuropathy (pain, numbness, or tingling) in the arms and legs beginning in childhood or early adulthood, MUSCLE WEAKNESS, ATAXIA, and vision loss due to retinitis pigmentosa. Affected children may also present with LEARNING DISABILITIES and older adults may experience DEMENTIA. Mutations in the MTATP6 gene have been identified. OMIM: 551500
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Neuropathy ataxia and retinitis pigmentosa MeSH Supplementary Concept Data 2024