Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature

Mutations in the gene result in phenotypes with severe forms of congenital muscular dystrophies (CMD) and limb-girdle muscular dystrophies. We present a Mexican patient with a pathogenic homozygous mutation in the gene (c.1387A > G, p.Asn463Asp) and CMD with radiological brain anomalies as dissem...

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Veröffentlicht in:	Journal of pediatric genetics (Birmingham, Ala.) Ala.), 2023-09, Vol.12 (3), p.237-241
Hauptverfasser:	Cervera-Gaviria, Marivi, Enterría-Rosales, Julia, Juárez-Vignon-Whaley, Juan José, García-Sánchez, Julián, Treviño-Velasco, Rodrigo, Cervera-Gaviria, Jaime
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Based Review
Online-Zugang:	Volltext
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