Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Senderek, J; Bergmann, C; Quasthoff, S; Ramaekers, VT; Schröder, JM.
X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
Acta Neuropathol (Berl). 1998; 95(5):443-449
Doi: 10.1007/s004010050823
(- Case Report)
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Quasthoff Stefan
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- Abstract:
- X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of overlapping morphological and clinical data, CMTX patients often meet the criteria of autosomal-dominant CMT2, the neuronal type of CMT. Hence, it might be useful to analyse the connexin32 gene in suspected CMT2 patients when there is no male-to-male transmission. We selected a cohort of 30 patients who were considered having CMT2 on the basis of previous clinical and histopathological evaluation. DNA was extracted from paraffin-embedded sural nerve biopsy samples and screened for connexin32 mutations to verify the possible diagnosis of CMTX. In 2 patients mutations were found corresponding to amino acid substitutions of arginine for tryptophan in codon 15 and arginine for glutamine in codon 22 of connexin32. This study illustrates that archival material allows genetic classification of suspected CMT cases. Furthermore, there is additional proof that connexin32 mutations represent the underlying genetic defect in some cases of predominantly neuronal CMT.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Charcot-Marie-Tooth Disease - genetics
- Connexins - genetics
- DNA - analysis
- Female - analysis
- Genes, Dominant - genetics
- Humans - genetics
- Linkage (Genetics) - genetics
- Male - genetics
- Middle Aged - genetics
- Mutation - genetics
- Polymerase Chain Reaction - genetics
- Polymorphism, Single-Stranded Conformational - genetics
- Sural Nerve - pathology
- X Chromosome - pathology
- Find related publications in this database (Keywords)
- X-linked Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease type 2
- hereditary motor and sensory neuropathy
- connexin32 mutations
- sural nerve biopsy