Muscular Dystrophy-Dystroglycanopathy with a Homozygous Pathogenic Variant in the TMEM5 Gene

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A homozygous pathogenic variant in TMEM5 was identified in three siblings with muscular dystrophy.
Next-generation sequencing revealed a frameshift mutation, c.139del, in the TMEM5 gene, indicating its role in disease.
High blood creatine kinase levels were noted alongside ocular or cerebral abnormalities in affected individuals.
The findings emphasize thorough genetic testing for accurate diagnosis and future treatment approaches.

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Observational analysis reveals pathogenic variant in TMEM5 in three siblings with muscular dystrophy, highlighting genetic testing importance.

Gulam Hekimoglu (2025) studied this question.

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Observational analysis reveals pathogenic variant in TMEM5 in three siblings with muscular dystrophy, highlighting genetic testing importance.