What does this research mean for the field?

The homozygous TTN NM_001267550.2:c.32676del frameshift variant is associated with early-onset limb-girdle muscular dystrophy characterized by delayed motor milestones and difficulty walking. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

This report aims to identify a specific TTN gene mutation in a patient with delayed motor milestones.

April 20, 2026Demiroglu Science University Florence Nightingale Journal of Medicine

Limb-girdle muscular dystrophy: A rare clinical case report

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This report aims to identify a specific TTN gene mutation in a patient with delayed motor milestones.
Clinical exome sequencing was performed on the patient.
Next-generation sequencing was employed to analyze genetic variants.
Sanger sequencing was conducted to confirm findings.
The TTN NM_001267550.2:c.32676del frameshift variant was identified as homozygous.
The mutation is noted as likely pathogenic in ClinVar but not previously documented in literature.
Family analysis revealed asymptomatic carrier status of the mutation.

Structured PICO

Population

21-month-old male patient with delayed motor-milestones and difficulty in walking

Intervention

Clinical exome sequencing, next-generation sequencing, and Sanger analyses

Outcome

Identification of genetic mutationsurrogate

Identifies a novel homozygous TTN frameshift variant associated with limb-girdle muscular dystrophy in a pediatric patient.

Discussion

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Implication

May guide counseling in TTN-related congenital myopathy; extends genotype-phenotype spectrum for recessive titinopathies including Salih myopathy.

Cite This Study

Aydin et al. (2024) studied this question.

synapsesocial.com/papers/69e5c3ec03c2939914029aef https://doi.org/10.5606/fng.btd.2024.143

Topics

Cardiomyopathy

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Implication

May guide counseling in TTN-related congenital myopathy; extends genotype-phenotype spectrum for recessive titinopathies including Salih myopathy.

Limb-girdle muscular dystrophy: A rare clinical case report

Key Points

Structured PICO

Discussion

Implication

Cite This Study

Topics

Limb-girdle muscular dystrophy: A rare clinical case report

Key Points

Structured PICO

Discussion

Implication

Cite This Study

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Topics

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