March 22, 2005Annals of Neurology

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H

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Structured PICO

Population

Patients with sarcotubular myopathy (STM) and limb girdle muscular dystrophy type 2H (LGMD2H), including two Hutterite brothers from South Dakota and two non-Hutterite brothers from Germany.

Outcome

Identification of the causative genetic mutation

Sarcotubular myopathy and LGMD2H are allelic disorders caused by the same D487N mutation in the TRIM32 gene.

Discussion

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Implication

Supports reclassifying sarcotubular myopathy as allelic to LGMD2H; leaves open mutation prevalence and phenotypic spectrum.

Cite This Study

Schoser et al. (2005) studied this question.

synapsesocial.com/papers/6a87aea68a3f93fc1e06184f https://doi.org/10.1002/ana.20441

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Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H

Structured PICO

Discussion

Implication

Cite This Study

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider