A study conducted in the Île-de-France region, involving researchers and clinicians from the Institute, describes the case of a patient who was diagnosed with congenital myopathy at the age of 20:
- the patient had suffered from diffuse muscle weakness since childhood, as well as central nervous system involvement, including learning difficulties and bilateral optic atrophy;
- high-throughput sequencing (NGS) identified a heterozygous variant in the SOX5 gene,
- histological examination of the muscle revealed the presence of numerous cores, mainly in the central region, with no other degenerative lesions or elevated CPK levels,
These findings expand the phenotypic spectrum of Lamb-Shaffer syndrome, in which SOX5 gene abnormalities had previously been described but without prominent muscle involvement.
