Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy.
Ullrich congenital muscular dystrophy
collagen VI
fatty infiltration
muscle fiber atrophy
telocytes
Journal
International journal of environmental research and public health
ISSN: 1660-4601
Titre abrégé: Int J Environ Res Public Health
Pays: Switzerland
ID NLM: 101238455
Informations de publication
Date de publication:
23 01 2022
23 01 2022
Historique:
received:
07
12
2021
revised:
07
01
2022
accepted:
18
01
2022
entrez:
15
2
2022
pubmed:
16
2
2022
medline:
3
3
2022
Statut:
epublish
Résumé
Ullrich congenital muscular dystrophy (UCMD) is a severe form of muscular dystrophy caused by the loss of function of collagen VI, a critical component of the muscle-tendon matrix. Magnetic resonance imaging of UCMD patients' muscles shows a peculiar rim of abnormal signal at the periphery of each muscle, and a relative sparing of the internal part. The mechanism/s involved in the early fat substitution of muscle fiber at the periphery of muscles remain elusive. We studied a muscle biopsy of the rectus femoris/deep fascia (DF) of a 3-year-old UCMD patient, with a homozygous mutation in the
Identifiants
pubmed: 35162283
pii: ijerph19031252
doi: 10.3390/ijerph19031252
pmc: PMC8834967
pii:
doi:
Substances chimiques
Collagen Type VI
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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