CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.

Type of publication: Academic publication
Disease: Congenital muscular dystrophy

Authors:

Mauri E, Piga D, Pagliarani S, Magri F, Manini A, Sciacco M, Ripolone M, Napoli L, Borellini L, Cinnante C, Cassandrini D, Corti S, Bresolin N, Comi GP, Govoni A.


Dear Editor,

We present the case of an Italian family, whose affected members showed different degrees of muscle involvement and histopathological features compatible with congenital myopathies (CM), in the presence of a rare CACNA1S heterozygous mutation.


Published: 15 December 2021
Journal: J Neurol Sci, volume 431

Link: doi.org/10.1016/j.jns.2021.120047

Link: Read here

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