French clinicians and biologists report the clinical, histopathological and genetic data of patients in whom the diagnosis of amylopectinosis (also known as Andersen’s syndrome or type IV glycogenosis) was confirmed by molecular biology in the context of a confirmed and very early muscle deficit:
- 10 patients from eight families were included in the study,
- all had experienced the onset of severe muscular symptoms in the ante- or neonatal period, and none survived beyond the first month,
- the diagnosis was supported by biochemical studies (glycogen branching enzyme or GBE activity) and by the identification of mutations in the GBE1 gene.
This cohort is numerically very large compared with the literature on the subject (only 50 cases of this type of amylopectinosis published to date).
