August 4, 2021Open Access

M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature

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Why the study?

Salih myopathy is a rare titinopathy previously identified only in the Arab population with unknown incidence, associated with a wide phenotypic spectrum across the TTN gene.

Structured PICO

Population

1 Moroccan female child aged 29 months with congenital myopathy and dilated cardiomyopathy, plus a literature review of 14 patients with congenital myopathy associated with a heart defect or development of dilated cardiomyopathy with at least one mutation in the M-band titin protein.

Intervention

Clinical Exome Sequencing (CES) and Sanger sequencing

Outcome

Identification of pathogenic TTN gene mutationssurrogate

The application of next-generation sequencing identified a novel homozygous truncating mutation in the TTN gene in a Moroccan patient with Salih myopathy, expanding the known mutation spectrum for this rare disease.

Limitations

Muscle biopsy for electron microscopy analysis was not performed because it is not available in Morocco.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

May inform diagnosis in similar myopathy cases; leaves open pathogenicity confirmation and broader correlations.

Cite This Study

Kadiri et al. (2021) studied this question.

synapsesocial.com/papers/6a2050f9268695cee1e72125 https://doi.org/10.21203/rs.3.rs-743096/v1

View Full Paper

Ask AI

Bookmark

M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature

Structured PICO

Limitations

Discussion

Implication

Cite This Study

M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature

Structured PICO

Limitations

Discussion

Implication

Cite This Study

Also Consider

Also Consider