Table 1 Clinical features in 13 patients harboring bi-allelic mutations in GMPPB
Case/Sex | P1/M | P2/M | P3/M | P4/F | P5/M | P6/F | P7/M | P8/M | P9/Ma | P10/Ma | P11/F | P12/F | P13/M |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mutations | p.I219T p.R287Q | p.T153I p.Q234* | p.K31E p.G174S | p.T153I p.P32L | p.P32L p. R287Q | p.G315S p.D27H | p.S168F p.Q234* | p.R243W p.P32L | p.D27H p.V330I | p.D27H p.V330I | p.R288Q p.C285YfsX19 | p.G220R p.R287Q | p.R287Q p.V330I |
Diagnosis | CRB | MEB | CMD-MR | CRB | CRB | LGMD | LGMD | LGMD | LGMD | LGMD | LGMD | LGMD | LGMD |
Onset | 18 months | birth | birth | birth | birth | 6 years | 13 years | 20 years | 28 years | 24 years | 7 years | 25 years | 34 years |
Distribution of weakness | Axial and upper girdle | Proximal lower girdle | generalized | generalized | generalized | Mild upper and lower limb girdle | Mild proximal | Mild proximal | Mild upper and lower limb girdle | Mild upper and lower limb girdle | Mild proximal | Mild proximal | Mild proximal |
Maximal motor acquisition | Independent walk with widening base | Independent walk with flat foot | Sitting position | none | none | Run with mild clumsiness | run | run | Run but loss of ambulation at 58 years | run | run | run | run |
Intellectual disability | + (mild) ASD | + (mild) | + (mild) | + (severe) | + (severe) | – | – | – | – | – | – | – | – |
Epilepsy | + | + | + | + drug resistant | + | + | – | – | – | – | – | – | – |
Brain MRI findings: Cerebellar hypoplasia WMC GMC | mild - Microcephaly | - + - | - - Microcephaly | mild - Polymicrogyria/Microcephaly | mild - Cortical hypoplasia/Microcephay | - + - | Not performed | Not performed | Not performed | Not performed | Not performed | Not performed | Not performed |
Ophthalmologic findings | Strabismus Nystagmus Cataract | Congenital cataract | – | Congenital cataract | – | – | – | – | – | – | – | – | – |
Cardiorespiratory findings | – | Respiratory distress at birth | Respiratory distress at birth | Respiratory distress at birth, sudden heart block at 20 months | – | Wolff-Parkinson-White type B syndr.ome | – | – | – | – | Short QT interval | – | – |
Other features | – | Facial dimorphisms | Facial dimorphisms, foot deformities kyphosis | Arthrogryposis | Tube Feed | Exercise intolerance myoglobinuria | Exercise intolerance | Easy fatigability | – | – | Scoliosis fatigability | Scoliosis fatigability | Mild fatigability |