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KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate

The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and conge...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Pediatr Neurosci
Päätekijät: Avasthi, Kapil K., Agarwal, Sarita, Panigrahi, Inusha
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Wolters Kluwer - Medknow 2019
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6935987/
https://ncbi.nlm.nih.gov/pubmed/31908664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_60_19
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