Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.

doi:10.1016/j.nmd.2021.02.004

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Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.

Neuromuscular disorders : NMD - 1 May 2021

Peña-Padilla Christian, Romero-Valenzuela Ivón, Baldomero-López Alejandra, Sandoval-Talamantes Ana Karen, Castellanos-González Abril, Nagy Peter L, Kelly Rebecca R, Corona-Rivera Jorge Román

Abstract excerpt

Duchenne muscular dystrophy is an X-Linked neuromuscular disorder, and the most common muscular dystrophy. Neuropsychiatric phenotype associated to DMD gene mutations include now low IQ scores, epilepsy, autism, and attention deficit disorder. These have been observed with higher frequency in mutations that disrupt the short isoforms Dp71 and Dp140. West syndrome has been previously reported in two unrelated...

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Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.

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