Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin

Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin

BMD is characterized by a marked heterogeneity of gene mutations resulting in many abnormal dystrophin proteins with different expression and residual functions. The smaller dystrophin molecules lacking a portion around exon 48 of the rod domain, named the D8 region, are related to milder phenotypes...

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Bibliographic Details
Main Authors: Daniele Capitanio, Manuela Moriggi, Pietro Barbacini, Enrica Torretta, Isabella Moroni, Flavia Blasevich, Lucia Morandi, Marina Mora, Cecilia Gelfi
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:International Journal of Molecular Sciences
Subjects:
muscle dystrophy
sarcopenia
muscle regeneration
muscle–bone interaction
LC-ESI-MS/MS
2-D DIGE
Online Access:https://www.mdpi.com/1422-0067/23/5/2624

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