Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.
Neurol India
; 71(6): 1257-1259, 2023.
Article
de En
| MEDLINE
| ID: mdl-38174471
ABSTRACT
Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were negative for pathogenic variants in COL6A genes. The authors report a 4-year old girl presented with a phenotype mimicking Ullrich congenital muscular dystrophy and genetically confirmed to have pathogenic variants in COL12A1 gene thus, expanding the phenotypic spectrum of COL12A1-related myopathy.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Maladies musculaires
/
Dystrophies musculaires
Limites:
Child, preschool
/
Female
/
Humans
Langue:
En
Journal:
Neurol India
Année:
2023
Type de document:
Article
Pays d'affiliation:
Inde
Pays de publication:
Inde