August 27, 2002Neurology

Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy

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Structured PICO

Population

7 new families with X-Linked myopathy with excessive autophagy (XMEA), including American and French families.

Intervention

Genetic fine-mapping using 11 new microsatellite markers and candidate gene sequencing.

Outcome

Refinement of the XMEA genetic locus and screening of candidate genes.surrogate

This study refines the genetic locus for XMEA to a 4.37-Mb region, advancing the search for the causative gene.

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Narrows XMEA locus for targeted sequencing; leaves open causative gene identification and clinical translation.

Minassian et al. (2002) studied this question.

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