Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus

Arthrogryposis multiplex congenita (AMC) is characterized by nonprogressive symmetric contractures of multiple joints with normal intellect and normal systemic examination. AMC is often due to fetal akinesia, which has neurologic, muscular, and connective tissue etiologies. We present a case of AMC...

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Detalles Bibliográficos
Autores principales: Balasundaram, Palanikumar, Avulakunta, Indirapriya Darshini, Delfiner, Leslie, Levy, Paul, Forman, Katie R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368502/
https://www.ncbi.nlm.nih.gov/pubmed/37497165
http://dx.doi.org/10.1155/2023/5535083

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368502/
https://www.ncbi.nlm.nih.gov/pubmed/37497165
http://dx.doi.org/10.1155/2023/5535083

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