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History and current difficulties in classifying inherited myopathies and muscular dystrophies
Abstract : The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies) for which similar proposals would also be relevant. Various genes (encoding structural proteins associated with the sarcolemma, nuclear membrane proteins, and proteins involved in myofiber metabolism have now been sequenced and mutations ascribed to specific forms of inherited muscular disorders. Based on our observations and our recent proposals in other neurogenetic conditions and informal discussions with specialists of neuromuscular disorders, the prerequisite for a simple and sound classification for inherited muscular disorders should encompass the clinical and pathological phenotypes (described in a simple and clear manner), the mode of inheritance, and the mutated gene. We think that the denomination of the different subtypes could be simplified considerably, although any new proposal of classification of muscular disorders will need to be discussed in the neurological and genetic communities.
https://hal-unilim.archives-ouvertes.fr/hal-02031010
Contributeur : Elisabeth Grelier <>
Soumis le : mercredi 20 février 2019 - 10:42:36
Dernière modification le : vendredi 28 août 2020 - 18:16:08
Contributeur : Elisabeth Grelier <>
Soumis le : mercredi 20 février 2019 - 10:42:36
Dernière modification le : vendredi 28 août 2020 - 18:16:08
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