Literature DB >> 24515601

Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a.

Anna Ardissone1, Raffaella Brugnoni, Claudia Gandioli, Micaela Milani, Claudia Ciano, Graziella Uziel, Isabella Moroni.   

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Year:  2014        PMID： 24515601     DOI： 10.1002/mus.24205

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  2 in total

1.  Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

Authors:  Haitian Nan; Yunqing Wu; Shilei Cui; Houliang Sun; Jiawei Wang; Ying Li; Lingchao Meng; Takamura Nagasaka; Liyong Wu
Journal:  BMC Neurol       Date:  2022-01-07       Impact factor: 2.474

Review 2.  Medical genomics: The intricate path from genetic variant identification to clinical interpretation.

Authors:  B Quintáns; A Ordóñez-Ugalde; P Cacheiro; A Carracedo; M J Sobrido
Journal:  Appl Transl Genom       Date:  2014-06-16
  2 in total

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