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Article

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

International journal of molecular sciences - 27 Feb 2022

Capitanio Daniele, Moriggi Manuela, Barbacini Pietro, Torretta Enrica, Moroni Isabella, Blasevich Flavia, Morandi Lucia, Mora Marina, Gelfi Cecilia

Abstract excerpt

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. The study aimed to determine which proteins might contribute to preserving muscle function in these patients....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Duchenne

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Identifiers

PMID: 35269765
DOI: 10.3390/ijms23052624
PMCID: PMC8910510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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