August 24, 2013NeurologyOpen Access

Recessive truncating titin gene, TTN , mutations presenting as centronuclear myopathy

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Population

29 unrelated patients with clinicopathologic diagnoses of centronuclear myopathies or related myopathy…

Design

Cohort

Authors

OCOzge Ceyhan‐BirsoyMemorial Sloan Kettering Cancer Center PAPankaj B. AgrawalPost Graduate Institute of Medical Education and Research CHCarlos HidalgoUniversity of Guayaquil

Discussion

Member takes

Implication

May expand centronuclear myopathy differential; extends TTN phenotypic spectrum but remains hypothesis-generating.

Structured PICO

Population

29 unrelated patients with clinicopathologic diagnoses of centronuclear myopathies (CNM) or related myopathy depleted for cases with mutations of MTM1, DNM2, and BIN1

Intervention

Whole-exome or -genome sequencing, immunofluorescence analyses on muscle biopsies, splicing assays, and gel electrophoresis

Outcome

Identification of causative genes for centronuclear myopathies

Truncating TTN mutations can cause congenital myopathy presenting as centronuclear myopathy, expanding the phenotypic spectrum of TTN mutations.

Cite This Study

Ceyhan‐Birsoy et al. (2013) studied this question.

synapsesocial.com/papers/6a70330c5d37378ac1dd454d https://doi.org/10.1212/wnl.0b013e3182a6ca62

View Full Paper

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Recessive truncating titin gene, TTN , mutations presenting as centronuclear myopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Recessive truncating titin gene, TTN , mutations presenting as centronuclear myopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider