A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths

Nelis, E; Erdem, SEVİM; Tan, E; Lofgren, A; Ceuterick, C; De Jonghe, P; Van Broeckhoven, C; Timmerman, V; Topaloglu, H

doi:10.1016/s0960-8966(02)00046-9

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths

Nelis E., Erdem S., Tan E., Lofgren A., Ceuterick C., De Jonghe P., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.12, sa.9, ss.869-873, 2002 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 12 Sayı: 9
Basım Tarihi: 2002
Doi Numarası: 10.1016/s0960-8966(02)00046-9
Dergi Adı: NEUROMUSCULAR DISORDERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.869-873
Hacettepe Üniversitesi Adresli: Evet

Özet

Mutations in the myotubularin-related protein 2 gene on chromosome 11q22 are known to cause autosomal recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. We screened the coding region of the myotubularin-related protein 2 gene in a Turkish consanguineous Charcot-Marie-Tooth disease family compatible with linkage to chromosome 11q22. A homozygous cytosine to thymine missense mutation at nucleotide position 847, resulting in an amino acid substitution of arginine to tryptophan at codon 283, was detected in exon 9 of the MTMR2 gene. This is the second homozygous missense mutation associated with recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths. (C) 2002 Elsevier Science B.V. All rights reserved.