Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy

Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I

“…The focus of this study was the clinical presentation, development and pathology findings of LGMD2I in patients at an early age. Acute muscle weakness was the presenting symptom in three toddlers, in accordance with a previous report (11). Early debut was also seen in patients homozygous for the c.826C>A mutation, but did not necessarily mean quick development of severe weakness (Patients 2 and 4).…”

Functional and cellular localization diversity associated with Fukutin‐related protein patient genetic variants

“…Our data indicate that it is possible to obtain a full functionality with overexpression of proteins that are recognized as being abnormal by the QC as demonstrated by their ER localization. A recent report demonstrated the correct function of the P488L mutant protein in vivo (Tucker, Lu, Xiao, & Lu, 2018). The authors showed that the mutant protein was able to restore the α-DG glycosylation at the muscle membrane and correction of the dystrophic phenotype when overexpressed by adeno-associated virus (AAV) injection in a P448L neo− mouse model.…”

Illness-associated muscle weakness in dystroglycanopathies

“…AIAW was previously associated primarily with FKTN mutations, but case reports describe it in patients with ISPD, GMPPB, and FKRP variants. [4][5][6][7][8][9][10][11][12]14,15 We found a significantly lower frequency of AIAW among patients with DBMD. Thus, our results together with the literature suggest that this phenomenon occurs preferentially in the DGs, independent of genotype.…”

“…Others have described this phenomenon and the clinical characteristics in our series are similar to what has been reported in a single series or in case reports. [4][5][6][7][8][9][10][11][12]14 We found this phenomenon typically occurs in children who are ,7 years old; others have reported it in patients between 3 months and 9 years old. [4][5][6][7][8][9][10][11][12]14 The DG-associated AIAW is often striking enough to result in hospitalization.…”

“…[4][5][6][7][8][9][10][11][12]14 We found this phenomenon typically occurs in children who are ,7 years old; others have reported it in patients between 3 months and 9 years old. [4][5][6][7][8][9][10][11][12]14 The DG-associated AIAW is often striking enough to result in hospitalization. 4,5 Respiratory distress is a common occurrence and can require intubation (our patient 16) 4,5 or result in death, 5 demonstrating the importance of monitoring respiratory status.…”