Novel ACTA1 Mutation in a Family with Congenital Myopathy and Variably-penetrant Cardiomyopathy

Neurogenetics: Congenital Myotonic Dystrophy with asymptomatic mother may be missed by whole exome sequencing; Biopsy, DMPK1 gene testing and EMG may be required to resolve VUS in neonates, A Case report.

LGMD-D2 TNPO3 related : a wide clinical spectrum Quality of Life and microRNAs study in two families