Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Massucco S, Gemelli C, Bellone E, Geroldi A, Patrone S, Mandich P, Scarsi E, Faedo E, Marinelli L, Mongini T, Traverso M, Baratto S, Schenone A, Fiorillo C, Grandis M.
Massucco S, et al.
Acta Myol. 2023 Dec 20;42(4):113-117. doi: 10.36185/2532-1900-323. eCollection 2023.
Acta Myol. 2023.
PMID: 38406380
Free PMC article.
Review.
We herein review the main phenotypes associated with SORD mutations and report the case of a 16-year-old man who was referred to our outpatient clinic for a slowly worsening gait disorder with wasting and weakness of distal lower limbs musculature. Since creatine ph …
We herein review the main phenotypes associated with SORD mutations and report the case of a 16-year-old man who was referred to our outpati …