Set binding factor 1 (SBF1) mutation causes charcot-marie-tooth disease type 4B3

Neurology

Volumn 82, Issue 18, 2014, Pages 1665-1666

[No Author Info available]

Author keywords

[No Author keywords available]

Indexed keywords

SET BINDING FACTOR 1; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COMPUTER MODEL; DISEASE SEVERITY; EXOME; EXOME SEQUENCING; GENE MAPPING; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; MICROCEPHALY; MISSENSE MUTATION; NEUROPATHY; NOTE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STRABISMUS; SYNDACTYLY;

CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION, MISSENSE; TRANSCRIPTOME;

EID: 84902163768     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000331     Document Type: Note

References (4)

1. Nakhro K, Park JM, Hong Y.B., et al. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology 2013; 81:165-173.
2. Bohlega S, Alazami AM, Cupler E, Al-Hindi H, Ibrahim E., Alkuraya FS A novel syndromic form of sensory-motor poly-neuropathy is linked to chromosome 22q13.31-q13.33. Clin Genet 2011; 79:193-195.
3. Firestein R, Nagy PL, Daly M, Huie P., Conti M, Cleary ML Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1. J Clin Invest 2002; 109:1165-1172. (Pubitemid 34496594)
4. Kuzmin A, Jarvi K, Lo K., et al. Identification of potentially damaging amino acid substitutions leading to human male infertility. Biol Reprod 2009; 81:319-326.