Article
Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Mar 2024
Nóbrega Paulo Ribeiro, de Brito de Souza Jorge Luiz, Maurício Rebeca Bessa, de Paiva Anderson Rodrigues Brandão, Dias Daniel Aguiar, Camelo Clara Gontijo, Zanotelli Edmar, Schlesinger David, Braga-Neto Pedro, Moreno Cristiane Araujo Martins
Abstract excerpt
BACKGROUND: Inherited nemaline myopathy is one of the most common congenital myopathies. This genetically heterogeneous disease is defined by the presence of nemaline bodies in muscle biopsy. The phenotypic spectrum is wide and cognitive involvement has been reported, although not extensively evaluated. METHODS: We report two nemaline myopathy patients presenting pronounced central nervous system involvement...
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