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Article

Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.

Human mutation - 1 Jan 2026

Soltani Nasibeh, Shahbazi Zahra, Fallah Mohammad Sadegh, Karimipoor Morteza, Bagherian Hamideh, Dabbagh Bagheri Samira, Shirzadeh Tina, Zafarghandi Motlagh Fatemeh, Rabie Salehi Gelareh, Younesikhah Shahrzad, Asnavandi Sadaf, Zeinali Razie, Majidi Ziba, Zeinali Sirous

Abstract excerpt

Background: Muscular dystrophies (MDs) are a genetically heterogeneous group of disorders, posing significant diagnostic challenges, especially in populations with high consanguinity. Despite advances in genetic testing, a substantial proportion of patients remain undiagnosed. Whole-exome sequencing (WES) has emerged as a powerful tool for identifying causal variants in such unresolved cases. To identify the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42553504
DOI: 10.1155/humu/6592066
PMCID: PMC13434219

Genes

COL6A2
COL6A1
DYSF
ITGA7
LMNA
MAP3K20
MICU1
SGCA
SGCB
TK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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