24 Jul 6400
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CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.
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.