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[Tibial muscular dystrophy. A rare form of distal myopathy].
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- Author(s): de Seze J;de Seze J; Udd B; Vermersch P
- Source:
Revue neurologique [Rev Neurol (Paris)] 1999 Apr; Vol. 155 (4), pp. 296-305.
- Publication Type:
Case Reports; English Abstract; Journal Article; Review
- Language:
French
- Additional Information
- Transliterated Title:
La myopathie tibiale. Une forme rare de myopathie distale.
- Source:
Publisher: Masson Country of Publication: France NLM ID: 2984779R Publication Model: Print Cited Medium: Print ISSN: 0035-3787 (Print) Linking ISSN: 00353787 NLM ISO Abbreviation: Rev Neurol (Paris) Subsets: MEDLINE
- Publication Information:
Publication: Paris : Masson
Original Publication: Paris.
- Subject Terms:
- Abstract:
Tibial muscular dystrophy (TMD) is a dominantly inherited late onset distal leg myopathy only described in the Finnish population as yet. A similar disorder was described by Markesbery et al. in 1974 in one American family. Assignment of the TMD locus to chromosome 2q31 has been demonstrated (Haravuori et al., 1998). We recently described a French family with clinical and laboratory findings similar to TMD (de Seze et al., 1998). Molecular genetic results indicate that the distal myopathy in this family could be linked to the TMD locus confirming TMD exists outside the Finish population. This overview of TMD will allow to describe differential diagnoses such as other distal myopathies and scapuloperoneal syndromes.
- Number of References:
61
- Publication Date:
Date Created: 19990615 Date Completed: 19991026 Latest Revision: 20061115
- Publication Date:
20221213
- Accession Number:
10367327
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