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CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5

Known as: Familial opticoacoustic nerve degeneration and polyneuropathy, CMTX5, Rosenberg Chutorian syndrome 
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal recessive inheritanceCongenital pectus excavatumGait AtaxiaHypoplasia of thumb

Broader (4)

Hearing Loss, CentralMuscular Disorders, AtrophicOptic Atrophies, HereditaryPolyneuropathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
X-linked Charcot–Marie–Tooth disease type 5 with recurrent weakness after febrile illness
2019
2019
A novel mutation in PRPS1 causes X‐linked Charcot‐Marie‐Tooth disease‐5
X‐linked Charcot‐Marie‐Tooth disease‐5 (CMTX5) is a rare hereditary disorder caused by mutations in the gene for phosphoribosyl… 
2019
2019
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
CMTX5 is characterized by peripheral neuropathy, early‐onset sensorineural hearing impairment, and optic neuropathy. Only seven… 
Review
2015
Review
2015
Association of PRPS1 Mutations with Disease Phenotypes
Phosphoribosylpyrophosphate synthetase 1 (PRPS1) codes for PRS-I enzyme that catalyzes the first step of nucleotide synthesis… 
2014
2014
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation
BackgroundX-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are… 
2014
2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
BackgroundPhosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in… 
Review
2013
Review
2013
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy
Abstract Objective: The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1… 
2013
2013
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy
Background X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is caused by mutations in the gene encoding phosphoribosyl… 
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