Demographic data and information obtained by low-density array analysis in patients and healthy controls.

PIM, possible intronic mutation.
aAge at the time the skeletal muscle biopsy was collected.
bGP activity units are µmol/min/g tissue.
cMutations identified in the protein translation product are indicated by a “p” and in the transcript level by a “c” (www.hgvs.org/mutnomen). GenBank reference sequences were NP_005600.1 and NM_005609.1.
dPatients's clinical severity was classified based on a numerical scale following the criteria defined by Martinuzzi et al. [17]
Abbreviations: M, male; F, female; NA, data non available; B, biceps; Q, quadriceps; D, deltoid; ND, not determined;