TableĀ 1

Molecular, phenotypical and histopathological data of patients with TAM with STIM1 mutations

Family 1Family 2Family 3Family 4Family 5Family 6
IndividualII.1II.4II.1II.2II.3II.2II.1
GenderMMFMFFM
Mutationc.239A>C
p.Asn80Thr
c.239A>C
p.Asn80Thr
c.286C>G
p.Leu96Val
c.322T>A
p.Phe108Ile
c.322T>A
p.Phe108Ile
c.322T>C
p.Phe108Leu
c.325C>A
p.His109Asn
OnsetChildhoodAdulthoodChildhoodChildhoodChildhoodAdulthoodChildhood
Age at last examination34701351465235
Muscle weaknessProximal, lower limbsProximal, predominantly lower limbsLower limbsPredominantly proximalPredominantly proximalNoNo
WalkingNormalFoot drop, unable to walk on heelsNormalWith support, unable to walk on heelsWith support, unable to walk on heelsNormalNormal
Eye movement defectsNoReduced lateral and upward gazeNoNoNoNoNo
ContracturesNoHeelsNoHeelsHeelsNoNo
CK level10 x6 x8 x4 xn.a.Normal15 x
HistologyTAs (mainly type II) fibre size variability, internal nuclei, fibrosisTAs, fibre size variability, internal nuclei, fibrosisTAs mainly (type II) fibre size variability, internal nucleiTAs, fibre size variability, type I fibre predominance, internal nuclei, fibrosisTAs, fibre size variability, type I fibre predominance, internal nuclei, fibrosisTAs, type II fibre atrophyTAs, type I fibre predominance, type II fibre atrophy
Tubular aggregate classificationVMCIcIcn.a.Ib and Icn.a.VMC and Ic
Additional featuresPostexercise myalgia and fatigability, calf hypertrophyMyalgiaMyalgia, reduced tendon reflexesMyalgiaMyalgiaMyalgiaPostexercise fatigability, calf hypertrophy, episodic diplopia
  • TAs, tubular aggregates (Classification: Ib=tubular aggregates with central tubule; Ic=tubular aggregates with empty or moderately dense flocculent material); VMC=vesicular membrane collection.

  • n.a., not assessed; TAM, tubular aggregate myopathy.