February 1, 2014Muscle & NerveOpen Access

Late adult‐onset of X‐linked myopathy with excessive autophagy

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Population

1 male patient with late adult-onset (after age 50) slowly progressive proximal weakness of the lower limbs

Design

Case_report

Authors

CCCameron D. CrockettWashington University in St. Louis ARAlessandra RuggieriUniversity of Toronto MGMeena GujratiUniversity of Illinois Urbana-Champaign

Discussion

Member takes

Implication

Extends XMEA phenotype to late adult onset; leaves open whether VMA21 sequencing is warranted in LAMP2-positive autophagic vacuolar myopathy.

Structured PICO

Population

1 male patient with late adult-onset (after age 50) slowly progressive proximal weakness of the lower limbs

Intervention

Muscle biopsy, ultrastructural evaluation, and Sanger sequencing

Outcome

Identification of VMA21 mutation and muscle biopsy findings

This case expands the clinical phenotype of XMEA to include late adult-onset presentation, suggesting VMA21 sequencing for men with LAMP2-positive autophagic vacuolar myopathy.

Cite This Study

Crockett et al. (2014) studied this question.

synapsesocial.com/papers/6a7094fef44fa9f079de3fd3 https://doi.org/10.1002/mus.24197

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Implication

Extends XMEA phenotype to late adult onset; leaves open whether VMA21 sequencing is warranted in LAMP2-positive autophagic vacuolar myopathy.

Late adult‐onset of X‐linked myopathy with excessive autophagy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Late adult‐onset of X‐linked myopathy with excessive autophagy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider